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
Subject
*HYPOPARATHYROIDISM
*DYSPLASIA
*DEAFNESS
*HUMAN abnormalities
*SYNDROMES
*
*
*
*
Language
ISSN
2050-0904
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. [ABSTRACT FROM AUTHOR]