Article
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
BMC medical genetics - 2 Mar 2018
Pereda Arrate, Garin Intza, Perez de Nanclares Guiomar
Abstract excerpt
BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat...
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