Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
about
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome.Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia SyndromeAutosomal Dominant Tubulointerstitial Kidney Disease.
P2860
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
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2016年學術文章
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name
Clinical and mutational spectr ...... and renal dysplasia syndrome.
@en
type
label
Clinical and mutational spectr ...... and renal dysplasia syndrome.
@en
prefLabel
Clinical and mutational spectr ...... and renal dysplasia syndrome.
@en
P2093
P2860
P356
P1476
Clinical and mutational spectr ...... and renal dysplasia syndrome.
@en
P2093
Hendrica Belge
Jean-François Cambier
Johann Morelle
Julie Bloch
Karin Dahan
Nathalie Demoulin
Philippe Vanhille
Valérie Benoit
Yves Pirson
P2860
P304
P356
10.1093/NDT/GFW271
P407
P577
2016-07-06T00:00:00Z