We describe the many diverse classes of genetic alterations that result in DFNB1 HI, such as large deletions that either destroy the GJB2 gene or remove a regulatory element essential for …

1998年9月28日 · GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) may also be referred by its genetic locus, DFNB1 (DFN for DeaFNess, B to indicate autosomal …

Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or GJB2-related deafness). [7] One fairly …

DFNB4型 (由SLC26A4基因突变导致)是一种常见的内耳发育畸形，主要表现为前庭导水管扩大 (enlarged vestibular aqueduct, EVA)，此类患儿一部分出生后或年幼时表现为重度－极重度耳 …

Mutations of GJB2 and GJB6 (connexin-26 and 30) at the DFNB1 locus are the most common cause of autosomal recessive, nonsyndromic deafness. Despite their widespread expression …

2022年4月6日 · What is DFNB1? DFNB1 is an inherited condition characterized by mild to profound hearing loss that is typically present from birth. In most cases, a person must have …

非综合征型听力损失与耳聋 (DFNB1)以 先天的 非进行性轻度到极重度感音神经性听力受损为特征。 无其他相关医学发现。 诊断/检测. DFNB1诊断取决于由 分子遗传学检测 出 GJB2 双等位 …

About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these cases are designated DFNB1. The GJB2 gene provides …

2017年12月22日 · We describe the many diverse classes of genetic alterations that result in DFNB1 HI, such as large deletions that either destroy the GJB2 gene or remove a regulatory …

2011年6月1日 · Among the different subtypes of autosomal recessive non-syndromic hearing impairment, DFNB1 is remarkable for its high frequency in most populations. It is caused by …