Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man
[OMIM] 146255), was first described by Barakat et al. in. It is a rare genetic disorder …

The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal
dominant disorder caused by heterozygous mutations of the GATA3 gene. In the last 20 …

HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism
(H), deafness (D), and renal dysplasia (R) caused by genetic variants of the GATA3 gene …

The HDR syndrome is a rare autosomal dominant disorder characterised by
Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating …

新发突变(de novo mutation, DNM) 是导致散发耳聋的重要遗传因素, 也是复杂耳聋综合征发病
的重要致病原因. 为了分析散发耳聋DNM 遗传学特征及其致病因素, 本文以2015 年10 月 …

Background There is no report about the association between GATA3 rs3824662
polymorphism and systemic lupus erythematosus (SLE). Objective To investigate the …

Barakat syndrome is a rare autosomal dominant disease caused by haplo-insufficiency of
transcription factor GATA3 on chromosome 10p14. It is characterized by a triad of …

The inner ear can be divided based on two functions: hearing and balance. The hearing
organ is called the cochlea, while the organs responsible for balance are collectively called …

This literature mining project is regarding mutations that cause hearing loss in patients with
human hypo parathyroid, deafness, and renal dysplasia (HDR) syndrome caused by a …

Barakat syndrome, also known as HDR syndrome, is a clinically heterogeneous, rare
genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness …