Llwytho...

Clinical and Genetic Aspects of the 15q11.2 BP1-BP2 Microdeletion Disorder

BACKGROUND: The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler susceptibility locus) is an emerging condition with over 200 individuals reported in the literature. TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when disturbed individually are known to cause neuro...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Intellect Disabil Res
Prif Awdur: Butler, Merlin G.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2017
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5464369/
https://ncbi.nlm.nih.gov/pubmed/28387067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jir.12382
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!