A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family

A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family

HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism (H), deafness (D), and renal dysplasia (R) caused by genetic variants of the GATA3 gene. We present the case of a 38-year-old Japanese man with HDR syndrome who exhibited hypoparathyroidism, sensorineural deafness, re...

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Bibliographic Details
Main Authors: Yutaka Hasegawa, Toshie Segawa, Ai Chida, Eriko Yoshida, Hirofumi Kinno, Hiraku Chiba, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki
Format: Article
Language:English
Published: The Japan Endocrine Society 2024-11-01
Series:Endocrine Journal
Subjects:
hypoparathyroidism
deafness and renal dysplasia (hdr) syndrome
gata3
Online Access:https://www.jstage.jst.go.jp/article/endocrj/71/11/71_EJ24-0147/_html/-char/en
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https://www.jstage.jst.go.jp/article/endocrj/71/11/71_EJ24-0147/_html/-char/en

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