Total: 1 |
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PMID (PMCID) | ||
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30323850 (6176277) |
OTHER | |
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism. | ||
D Hidalgo-Santos A, Del Carmen DeMingo-Alemany M, Moreno-Macian F, Rosello M, Orellana C, Martinez F, Caro-Llopis A, Leon-Carinena S, Tomas-Vila M. Int J Endocrinol Metab. 2018;16(3):e67329. |
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The current study presented the case of a patient with SYS and a novel de novo truncating mutation of MAGEL2 and phenotypic characteristics typical of this Prader-Willi-like syndrome and also including partial hypopituitarism, hypothyroidism, growth hormone deficiency, and hyperprolactinemia. |