Nalaganje...
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative ge...
Shranjeno v:
| izdano v: | Chin Med J (Engl) |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Medknow Publications & Media Pvt Ltd
2017
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5358421/ https://ncbi.nlm.nih.gov/pubmed/28303854 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0366-6999.201600 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|