Heterogeneity of Chondrodysplasia punctata (Q71760211)

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21 October 2019

title

Heterogeneity of Chondrodysplasia punctata (English)

1 reference

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21 October 2019

1 reference

chondrodysplasia punctata

1 reference

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https://api.crossref.org/works/10.1007/BF00274739

31 May 2023

2

J M Opitz

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21 October 2019

author name string

J. W. Spranger

series ordinal

1

1 reference

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31 May 2023

U. Bidder

series ordinal

3

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31 May 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5544780

31 May 2023

publication date

1 January 1971

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full work available at URL

21 October 2019

http://link.springer.com/content/pdf/10.1007/BF00274739.pdf

file format

Portable Document Format

1 reference

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http://link.springer.com/article/10.1007/BF00274739/fulltext.html

31 May 2023

1 reference

https://api.crossref.org/works/10.1007/BF00274739

http://link.springer.com/content/pdf/10.1007/BF00274739

31 May 2023

1 reference

https://api.crossref.org/works/10.1007/BF00274739

31 May 2023

1 reference

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21 October 2019

volume

11

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21 October 2019

issue

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:5544780%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

190-212

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A hereditary factor in chondrodystrophia calcificans congenita

21 October 2019

cites work

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Cataract in chondrodystrophia calcificans congenita (Conradi-Hünermann syndrome)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Cerebro-hepato-renal Syndrome of Zellweger

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Dysplasia epiphysialis punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondrodystrophia calcificans congenita; report of a case

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

CHONDRODYSTROPHIA CALCIFICANS CONGENITA; CHONDRODYSPLASIA EPIPHYSIALIS PUNCTATA, STIPPLED EPIPHYSES

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Skin manifestations of Conradi's disease. Chondrodystrophia congenita punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondrodystrophia calcificans congenita; report of two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondro-Angiopathia Calcarea Seu Punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Congenital chrondrodystrophia calcificans]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

A CONTRIBUTION TO THE PROBLEM OF CONGENITAL CHONDRODYSTROPHIA CALCIFICANS

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT"

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Stippled epiphyses in a newborn infant without micromelia

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Congenital Deformities with Stippled Epiphyses and Congenital Cataract.

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[The clinical and radiological development of congenital calcifying chondropathy]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Chondrodystrophia calcificans congenita]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[The problem of chondrodysplasia calcificans congenita.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

A significant variant in the ossification centers of the vertebral bodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondrodystrophia calcificans congenita (dysplasia epiphysalis punctata). Recognition of the clinical picture

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Chondrodystrophia calcificans congenita]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Case of congenital disease of dotted epiphyses]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Conradi's disease. Chondrodystrophia calcificans congenita, congenital stippled epiphyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondrodystrophia calcificans congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Mongoloid features with normal chromosomes--dysplasia epiphysialis punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Special forms of fetal chondrodysplasia (chondrodystrophy), in particular congenital calcifying chondrodysplasia.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

AN ADDITIONAL CASE OF CHONDRODYSTROPHIA CALCIFICANS CONGENITA (CONRADI-HUENERMANN SYNDROME)

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Congenital calcific chondrodystrophy; a case report with consideration of etiology.

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Subglottic pseudotumor, laryngeal dysplasia, and chondrodysplasia calcificans congenita with a t(D;B) chromosomal translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

CONTRIBUTION TO CONGENITAL CHONDRODYSTROPHIA CALCIFICANS (CONRADI-HUENERMANN SYNDROME)

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Dysplasia epiphysialis punctata; report of a case and review of literature.

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Dysplasia epiphysialis punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Description of chondrodysplasia calcificans congenita and its relation to chondrodysplasia foetalis]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Follicular atrophoderma and pseudopelade associated with chondrodystrophia calcificans congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondrodystrophia calcificans congenita; case report with autopsy findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondrodystrophia calcificans congenita (dysplasia epiphysialis punctata)

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Chondrodystrophia calcificans congenita.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Epiphyseal chondrodysplasia (Hunnerman's disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondroangiopathia calcarea seu punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Ocular involvement in chondrodystrophia calcificans congenita punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Punctate epiphyseal dysplasia, another cause of leg length inequality

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondrodystrophia calcificans congenita. Report of a case and review of the literature.

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

CHONDRANGIOPATHIA CALCAREA OR PUNCTATA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Chondrodystrophia calcificans congenita; dysplasia epiphysialis punctata]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Dysplasia epiphysialis punctata; report of a case with discussion

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Congenital disease of stippled epiphyses or fetal chondrodystrophic epiphysial calcinosis]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

A Dwarf with Stippled Epiphyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondroangiopathia calcarea seu punctata; review and case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Extreme micromelia in chondrodysplasia calcificans congenita; with a contribution to its etiology.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Dyspiasia epiphysialis punctata.

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Punctuate epiphyseal dysplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Two Cases, and Specimens from a Third Case, of Punctate Epiphyseal Dysplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Congenital calcifying chondrodysplasia]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Calcareous chondropathies in the newborn infant

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Stippled epiphyses in the newborn and in infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Familial congenital cataract in calcifying chondrodystrophy (disease of spoted epiphyses)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

CONTRIBUTION TO THE CLINICAL PICTURE OF CHONDRODYSTROPHIA CALCIFICANS CONGENITA (CONRADI-HUENERMANN)

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Congenital stippled epiphyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Dysplasia epiphysialis punctata; synonyms; stippled epiphyses, chondrodystrophia calcificans congenita (Hünermann)

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Congenital stippled epiphyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[A case of congenital chondrodystrophia punctata]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

The clinical picture of chondrodysplasia calcificans congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondrodystrophia calcificans congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondrodystrophia calcificans congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Chondrodystrophia calcificans congenita; report of a case

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Epiphysial dysplasia; a proteiform entity.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Punctate epiphyseal dysplasia (chondrodystrophia calcificans congenita); report of case with nine year period of observation

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

[Calcareous or punctate chondroangiopathy; clinico-radiological study.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/5544780

12 December 2020

Identifiers

DOI

10.1007/BF00274739

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:5544780%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference