Graziano, Claudio

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