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- Title
Pseudohypoparathyroidism Type IA (PHP-Ia): Maternally Inherited GNAS Gene Mutation.
- Authors
Semiz, Serap; Duzcan, Fusun; Candemir, Masallah; Caner, Vildan; Thiele, Susanne; Semiz, Ender; Hiortz, Olaf
- Abstract
The article presents a case report of a 14 year-old boy who experienced numbness of hands and feet and short stature. Images of the patient's hand and feet radiograms and cranial computed tomography (CT) scan are shown. It reports that the patient had a record of mild motor and mental retardation. Details of the patient's physical signs and laboratory tests conducted are provided. A diagnosis of pseudopseudohypoparathyrodism (PHP-Ia) inherited from his mother is also noted.
- Subjects
CASE studies; SHORT stature; HAND diseases; FOOT diseases; TOMOGRAPHY
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2009, Vol 22, Issue 2, p107
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/JPEM.2009.22.2.107