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Congenital disorder of glycosylation type Ia in a 6‐year‐old girl with a mild intellectual phenotype: Two novel PMM2 mutations
Author(s) -
Coman D.,
Klingberg S.,
Morris D.,
McGill J.,
Mercer H.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0166-y
Subject(s) - girl , phenotype , intellectual disability , glycosylation , genetics , mutation , gene , human genetics , medicine , biology
Summary We report two novel mutations in the PMM2 gene in a girl with congenital disorder of gylcosylation type Ia (CDG Ia) and a mild intellectual phenotype.