| 概要 |
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) is a syndromic intellectual disability caused by mutations in HNRNPH1. Features include a distinctive dysmorphic face, congenital anomalies including cranial and brain abnormalities, genitourinary malformations, and palate abnormalities. HNRNPH1 encodes hnRNP H which belongs to the hnRNP family proteins. They bind to pre-mRNA transcripts and assist in stabilizing, transporting, and targeting transcripts between the nucleus and cytoplasm for processing and alternative splicing prior to becoming mature mRNAs.
|
|---|
| 著者 |
Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodriguez-Palmero A, Fourcade S, Schluter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R |
|---|
