Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature | Zendy

Yun-Ling Li | Zendy; Ting Han | Zendy; Hong Fang | Zendy

Open Access

Cutaneous 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.

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