A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as the cause of a clinically heterogeneous spectrum of X‐linked disorders including (i) early onset epileptic encephalopathy with severe muscular hypotonia, dysmorphism, multiple congenital...

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Veröffentlicht in:	American journal of medical genetics. Part A 2016-02, Vol.170A (2), p.392-402
Hauptverfasser:	Fauth, Christine, Steindl, Katharina, Toutain, Annick, Farrell, Sandra, Witsch-Baumgartner, Martina, Karall, Daniela, Joset, Pascal, Böhm, Sebastian, Baumer, Alessandra, Maier, Oliver, Zschocke, Johannes, Weksberg, Rosanna, Marshall, Christian R., Rauch, Anita
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Child Female Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - pathology Germ-Line Mutation - genetics germline mutation GPI anchor Humans Infant, Newborn Male Membrane Proteins - genetics Pedigree Phenotype PIGA Simpson Golabi Behmel syndrome type 2
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