A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome

BACKGROUND: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder caused by mutations in the zinc finger transcription factor gene, GATA3. GATA3 has 2 zinc finger domains, which play an important role in the increase in target gene transcription activ...

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Detalles Bibliográficos
Autores principales: Okawa, Tetsuji, Yoshida, Masanori, Usui, Takeshi, Kudou, Takahiro, Iwasaki, Yasumasa, Fukuoka, Kazuki, Takahashi, Norio, Uehara, Yuka, Oiso, Yutaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627412/
https://www.ncbi.nlm.nih.gov/pubmed/26514990
http://dx.doi.org/10.1186/s12902-015-0065-7

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