학술논문
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation
Document Type
article
Author
Source
Clinical Case Reports, Vol 8, Iss 12, Pp 2619-2624 (2020)
Subject
Language
English
ISSN
2050-0904
Abstract
Abstract 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 phenotypic heterogeneity raises a caution for diagnosis.