Barakat syndrome revisited-Reference-Cited by-同舟云学术

Barakat syndrome revisited

Published:2018-04-16 Issue:6 Volume:176 Page:1341-1348
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Barakat Amin J.¹^ORCID,Raygada Margarita¹²,Rennert Owen M.²³

Affiliation:

1. Georgetown University Medical Center; Washington DC

2. Section on Endocrinology & Genetics; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH); Bethesda Maryland

3. Department of Pediatrics; Georgetown University Medical Center; Washington DC

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference93 articles.

1. A novel mutation in the GATA3 gene in a family with HDR syndrome (hypoparathyroidism, sensorineural deafness and renal anomaly syndrome);Adachi;Journal of Pediatric Endocrinology and Metabolism,2006

2. HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis;Aksoylar;Journal of Pediatric Endocrinology and Metabolism,2004

3. Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia;Al-Shibli;Pediatric Nephrology,2011

4. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: Insight into mechanisms of DNA binding by the GATA3 transcription factor;Ali;Human Molecular Genetics,2007

5. A rare cause of hypocalcemia: Familial hypoparathyroidism;Bahceci;Endocrine Abstracts,2014

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