Craniofrontonasal dysplasia (Q56394619)

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20 September 2019

title

Craniofrontonasal dysplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1468459%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

author name string

L Kapusta

series ordinal

1

1 reference

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20 September 2019

H G Brunner

series ordinal

2

1 reference

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20 September 2019

B C Hamel

series ordinal

3

1 reference

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20 September 2019

language of work or name

English

0 references

publication date

1 November 1992

1 reference

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European Journal of Pediatrics

20 September 2019

published in

1 reference

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20 September 2019

volume

151

1 reference

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20 September 2019

issue

11

1 reference

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20 September 2019

page(s)

837-841

1 reference

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The central nervous system in the Apert syndrome

20 September 2019

cites work

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Craniofrontonasal dysplasia in a three-generation kindred.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndro

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Craniosynostosis update 1987.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Frontonasal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Frontonasal dysplasia with coronal craniosynostosis in three sibs

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

New autosomal dominant syndrome resembling craniofrontonasal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Congenital hypothalamic hamartoma associated with severe midline defect: a developmental field defect. Report of a case

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Craniofrontonasal dysplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Craniofrontonasal dysostosis: variable expression in a three-generation family

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Radiocephalometric findings in a family with craniofrontonasal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Craniofrontonasal dysostosis with deafness and axillary pterygia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Craniofrontonasal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Frontonasal dysplasia associated with tetralogy of Fallot

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Midline facial defects with ocular colobomata

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Familial polysyndactyly and craniofacial anomalies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Delineation of the male phenotype in carniofrontonasal syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Fronto‐facio‐nasal dysostosis – a new autosomal recessive syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1468459

12 December 2020

Identifiers

DOI

10.1007/BF01957936

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1468459%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

1 reference