Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

Torrico, Bàrbara

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. [electronic resource] - European journal of human genetics : EJHG Dec 2015 - 1694-701 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2015.37 doi


Autism Spectrum Disorder--genetics
Case-Control Studies
Cell Line, Tumor
Female
Humans
Intellectual Disability--genetics
Male
Membrane Proteins--genetics
Mutation, Missense
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Trinucleotide Repeats