Baidu
map

A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical report

Gonzalez-Tarancon, R; Salvador-Ruperez, E; Goni-Ros, N; Alvarez, SI; Sanchez-Navarro, I; Garcia, MM; Segura, JLP; Lafuente, AL

Goni-Ros, N (通讯作者),Hosp Univ Miguel Servet, Dept Clin Biochem, C Padre Arrupe S-N,Planta 3a, Zaragoza 50009, Spain.

EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2022; 23 (1):

Abstract

Background Rahman syndrome (RMNS) is a rare genetic disorder inherited in an autosomal dominant manner caused by a de novo mutation in H1-4 gene. Sinc......

Full Text Link


Baidu
map
Baidu
map
Baidu
map