Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. [electronic resource]
- Gene Apr 2015
- 144-8 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1879-0038
10.1016/j.gene.2015.01.026 doi
Abnormalities, Multiple--enzymology Adult Aromatic-L-Amino-Acid Decarboxylases--genetics Base Sequence Consanguinity Humans Intellectual Disability--genetics Male Mutation, Missense Polymorphism, Single Nucleotide Syndrome Young Adult