Open AccessCase report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation
Author(s) -
Leclercq Valérie,
Benoit Valérie,
Lederer Damien,
Delaunoy Melanie,
Ruiz Marcela,
Halleux Claire,
Robaux Olivier,
Wanty Catherine,
Maystadt Isabelle
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1739
Subject(s) - gnas complex locus , medicine , pseudohypoparathyroidism , germline , phenotype , genetics , allele , mutation , osteodystrophy , germline mutation , biology , gene , parathyroid hormone , calcium
Key Clinical Message Germline loss‐of‐function GNAS mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, underlying the extremely variable expressivity of this syndrome.