Opening book details…
Can I read A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel on EtoBox?
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel by Erhan Parıltay; Filiz Hazan; Esra Ataman; Korcan Demir; Özdal Etlik; Erhan Özbek; Behzat Özkan is a Medicine article available to read on EtoBox.
What is A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel about?
Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic heterogeneity because of the additional clinical features. ASS and some syndromes including the autosomal dominant inherited form of Robinow syndrome, Noonan syndrome, pseudohypoparathyroidism, Silver-Russel and SHORT syndrome have some overlapping phenotypic features. Herein, we report a patient with ASS and a large anterior fontanel who was initially diagnosed as Robinow syndrome. He was found to have a novel c.1340+2 T > A splice site mutation on the FGD1 gene.
Who reads A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Erhan Parıltay; Filiz Hazan; Esra Ataman; Korcan Demir; Özdal Etlik; Erhan Özbek; Behzat Özkan
- Publisher
- Walter de Gruyter GmbH
- Published
- 2016
- Language
- EN
- Field
- Medicine (Health Sciences)