A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family history. The ph...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Kishi, Haruka, Jojima, Teruo, Kogai, Takahiko, Iijima, Toshie, Ohira, Eriko, Tanuma, Dai, Konno, Sachiyo, Kato, Kanako, Kezuka, Atsumi, Akimoto, Kazumi, Sakumoto, Junko, Hishinuma, Akira, Tomaru, Takuya, Makita, Noriko, Usui, Isao, Aso, Yoshimasa
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7752573/
https://ncbi.nlm.nih.gov/pubmed/33363791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3186
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados