A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).
about
Auditory and vestibular phenotypes associated with GATA3 mutation.Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation.Role of the GATA family of transcription factors in endocrine development, function, and diseaseA Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia SyndromeAhsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR).Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia SyndromeHDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease.Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.Novel dominant-negative mutant of GATA3 in HDR syndrome.Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations
P2860
Q33940407-B1CF75F3-3FC2-445F-A37E-23AEB732835BQ35419786-10195173-AAAC-4F8B-BE4C-6796A9B62C39Q36512426-E5381F84-4D30-4A5F-A365-94CC2D9BFC47Q36722560-E5D6F5F0-FEEB-49DA-938B-B6C64829B1BBQ37137802-A651285B-8B33-4BBE-9A1C-2414E227EE46Q37711664-26A7C3CA-FB52-4089-A438-F60C808AC811Q41903466-24019A6E-90D2-4844-9C9F-A8E4A5AF0856Q50358207-C1230494-B6E9-4D77-8577-C4D0FD806B3EQ50434627-60BCD634-44BF-47C8-8A78-6A83EC36E777Q50435707-377EA83D-0E4B-48AA-B9B7-20EAAC96F752Q58682362-C45CD916-C606-45D5-8A2E-754618F41511
P2860
A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
A novel mutation in the GATA3 ...... s and Renal anomaly syndrome).
@en
type
label
A novel mutation in the GATA3 ...... s and Renal anomaly syndrome).
@en
prefLabel
A novel mutation in the GATA3 ...... s and Renal anomaly syndrome).
@en
P2860
P1476
A novel mutation in the GATA3 ...... ss and Renal anomaly syndrome)
@en
P2093
Katsuhiko Tachibana
Takayoshi Tsuchiya
P2860
P356
10.1515/JPEM.2006.19.1.87
P577
2006-01-01T00:00:00Z