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A Novel De Novo GATA Binding Protein 3 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, inherited dominantly and found to be related with GATA3 (GATA binding protein 3) gene mutations. A 13-year and 8-month-old boy who presented with hypocalcemia was diagnosed with hypoparathyroidism. He al...

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Detalles Bibliográficos
Autores principales:	Yeşiltepe Mutlu, Gül, Kırmızıbekmez, Heves, Nakamura, Akie, Fukami, Maki, Hatun, Şükrü
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805226/ https://www.ncbi.nlm.nih.gov/pubmed/26777049 http://dx.doi.org/10.4274/jcrpe.2249

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