Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome (Q33570147)
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scientific article
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome |
scientific article |
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1 reference
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome (English)
1 reference
Ben C Hamel
A Kemal Topaloglu
Alejandro Lomniczi
Gregory A Dissen
A Filiz Koc
Metin Guclu
Esra D Papatya
Mandy Cook
M Burcu Kekil
Neslihan O Mungan
17 July 2014
1 reference