Megalencephaly Polymicrogyria Polydactyly Hydrocephalus (MPPH): A Case Report and Review of Literature
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference17 articles.
1. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures;Mirzaa G;Neuropediatrics,2004
2. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia;Nellist M;Mol Genet Metab,2015
3. MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations;Sameshima T;Pediatr Int,2020
4. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings;Szalai R;Exp Mol Pathol,2020
5. MPPH Syndrome;Mirzaa G,1993
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