Article
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature.
European journal of medical genetics - 1 Aug 2021
Halloun Rana, Habib Clair, Ekhilevitch Nina, Weiss Ram, Tiosano Dov, Cohen Michal
Abstract excerpt
Schaaf-Yang syndrome is a genetic disorder caused by mutations in the paternal allele of the MAGEL2 gene. Developmental delay, feeding difficulties, joint contractures and a high prevalence of autism spectrum disorders are characteristic of the syndrome. Endocrine abnormalities include mostly various pituitary hormonal deficiencies, presenting as hypoglycemia in 48% of reported cases. Persistent hyperinsulinism...
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