Literature DB >> 18426329

Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome.

Gholamhossein Ranjbar-Omrani1, Nima Zamiri, Behnam Sabayan, Azam Mohammadzadeh.   

Abstract

Barakat syndrome, also known as hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an extremely rare congenital disorder. Different etiologies are described for the syndrome but the definite pathophysiology remains unclear. Hereby, we present a case of Barakat syndrome who was diagnosed on the basis of clinical and molecular data.

Entities:  

Mesh:

Substances:

Year:  2008        PMID: 18426329     DOI: 08113/AIM.0019

Source DB:  PubMed          Journal:  Arch Iran Med        ISSN: 1029-2977            Impact factor:   1.354


  3 in total

1.  Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.

Authors:  Amar Al-Shibli; Ibrahim Al Attrach; Patrick J Willems
Journal:  Pediatr Nephrol       Date:  2011-03-12       Impact factor: 3.714

2.  Seizure, deafness, and renal failure: a case of barakat syndrome.

Authors:  Nasrollah Maleki; Bahman Bashardoust; Manouchehr Iranparvar Alamdari; Zahra Tavosi
Journal:  Case Rep Nephrol       Date:  2013-10-22

3.  HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

Authors:  Aram Yang; Jinsup Kim; Chang-Seok Ki; Sung Hwa Hong; Sung Yoon Cho; Dong-Kyu Jin
Journal:  BMC Med Genet       Date:  2017-10-26       Impact factor: 2.103

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.