Novel heterozygous GATA3 and SLC34A3 variants in a 6‐year‐old boy with Barakat syndrome and hypercalciuria
نویسندگان
چکیده
منابع مشابه
A rare cause of primary hypoparathyroidism due to a novel mutation in the GATA3 gene – the Barakat syndrome
Barakat syndrome, also known as HDR syndrome (hypoparathyroidism, deafness and renal dysplasia), is a rare autosomal dominant disorder, secondary to mutation of the GATA3 gene which is located at chromosome 10p. The GATA3 protein is one of the transcription factors which play an essential role in the embryonic development of the parathyroids, inner ears and kidneys. We report a Chinese patient ...
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چکیده ندارد.
A Novel De Novo Gata3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness and Renal Dysplasia Syndrome
Hypoparathyroidism, deafness and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease which is first defined by Barakat in 1977 (1). It is characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia, inherited dominantly and found to be related with GATA3 gene mutations. This gene is located on 10 p 15 and is essential in embryonic development of the parathyroid gla...
متن کاملa comparison of teachers and supervisors, with respect to teacher efficacy and reflection
supervisors play an undeniable role in training teachers, before starting their professional experience by preparing them, at the initial years of their teaching by checking their work within the proper framework, and later on during their teaching by assessing their progress. but surprisingly, exploring their attributes, professional demands, and qualifications has remained a neglected theme i...
15 صفحه اولKCNE1 and KCNE2 variants in Patients with Long QT Syndrome
Introduction: Long QT syndrome (LQTS) is a type of ventricular arrhythmia characterized by prolonged QT intervals on electrocardiogram or delay in ventricular repolarization and it can lead to syncope, seizure and sudden cardiac death. Here, KCNE1 and KCNE2 variants are studied among Iranian affected families with this syndrome. Materials and Methods: Fifty patients referring to Rajaei Cardiov...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2020
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.1222