Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation.
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ABSTRACT:
SUBMITTER: Leclercq V
PROVIDER: S-EPMC6186887 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
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Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a <i>GNAS</i> mutation.
Leclercq Valérie V Benoit Valérie V Lederer Damien D Delaunoy Melanie M Ruiz Marcela M de Halleux Claire C Robaux Olivier O Wanty Catherine C Maystadt Isabelle I
Clinical case reports 20180816 10
Germline loss-of-function <i>GNAS</i> 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. ...[more]
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