DIAPH3
13q21.2 HGNC:15480 Entrez:81624
Pathology
DIAPH3 variants in autism (#20308993#)
- 10% of autism cases are caused by de novo structural genomic rearrangements.
- DIAPH3 as a novel autism susceptibility gene.
References
A double hit implicates DIAPH3 as an autism risk gene. Vorstman JA, van Daalen E, Jalali GR, Schmidt ER, Pasterkamp RJ, de Jonge M, Hennekam EA, Janson E, Staal WG, van der Zwaag B, Burbach JP, Kahn RS, Emanuel BS, van Engeland H, Ophoff RA. Mol Psychiatry. 2010 Mar 23. PMID : #20308993#