WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
about
Molecular subtyping and improved treatment of neurodevelopmental disease.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin ComplexesA genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.Insight into the molecular genetics of myopia.Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
P2860
Q36616304-C5DE6037-AF7F-4A94-BDE1-B50CD5DAFAB7Q37640927-FF09E7B8-B80E-4F80-BEF4-B0C9DC1CFCA5Q38933635-E43ADC95-5715-4CDA-A3F7-66C38AC58CA6Q42741621-BF9F8CF7-BB7D-44C9-A9D5-3D6B0C27BEB5Q47326051-64CC12FB-1F81-448D-B3D4-096571E931D2Q47701145-85A2B93C-680A-49C6-8FE0-18816052088CQ49912337-C02310F0-E30C-4917-BAD1-94F20F66A357
P2860
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
WAC loss-of-function mutations ...... p11.23 microdeletion syndrome.
@en
type
label
WAC loss-of-function mutations ...... p11.23 microdeletion syndrome.
@en
prefLabel
WAC loss-of-function mutations ...... p11.23 microdeletion syndrome.
@en
P2093
P2860
P50
P1476
WAC loss-of-function mutations ...... 0p11.23 microdeletion syndrome
@en
P2093
April Rahrig
Arelis Martir-Negron
Audrey Schroeder
Bethany Friedman
Cori DeSanto
Gabriel C Araujo
Jane Juusola
Jonathan Dodd
Kristin D'Aco
P2860
P304
P356
10.1136/JMEDGENET-2015-103069
P407
P577
2015-08-11T00:00:00Z