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- Title
Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation.
- Authors
Leclercq, Valérie; Benoit, Valérie; Lederer, Damien; Delaunoy, Melanie; Ruiz, Marcela; Halleux, Claire; Robaux, Olivier; Wanty, Catherine; Maystadt, Isabelle
- Abstract
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. 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.
- Subjects
PSEUDO-pseudohypoparathyroidism; GENETIC mutation; PHENOTYPES; SELF-expression; JUVENILE diseases
- Publication
Clinical Case Reports, 2018, Vol 6, Issue 10, p1933
- ISSN
2050-0904
- Publication type
Case Study
- DOI
10.1002/ccr3.1739