A novel splice site mutation of FGD1 gene in an...

Journal of Pediatric Endocrinology and Metabolism 2016 / 01

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel

Parıltay, Erhan, Hazan, Filiz, Ataman, Esra, Demir, Korcan, Etlik, Özdal, Özbek, Erhan, Özkan, Behzat
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Language:
english
Journal:
Journal of Pediatric Endocrinology and Metabolism
DOI:
10.1515/jpem-2015-0482
Date:
January, 2016
File:
PDF, 1008 KB
english, 2016
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