Open AccessCutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature
Author(s) -
Yun-Ling Li,
Ting Han,
Hong Fang
Publication year - 2020
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v8.i3.587
Subject(s) - gnas complex locus , pseudohypoparathyroidism , medicine , parathyroid hormone , thyroid nodules , endocrinology , calcinosis cutis , short stature , calcification , pathology , gastroenterology , thyroid , calcinosis , calcium , biochemistry , chemistry , gene
Pseudohypoparathyroidism type Ia (PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel GNAS mutation.