Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
Abstract Background Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmo...
Kaydedildi:
Asıl Yazarlar: | , , , , , |
---|---|
Materyal Türü: | Kitap |
Baskı/Yayın Bilgisi: |
BMC,
2019-01-01T00:00:00Z.
|
Konular: | |
Online Erişim: | Connect to this object online. |
Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|
Internet
Connect to this object online.3rd Floor Main Library
Yer Numarası: |
A1234.567 |
---|---|
Kopya Bilgisi 1 | Kütüphanede |