Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
about
Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency.Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.
P2860
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Delineating the phenotypic spe ...... eview of published literature.
@en
Delineating the phenotypic spe ...... eview of published literature.
@nl
type
label
Delineating the phenotypic spe ...... eview of published literature.
@en
Delineating the phenotypic spe ...... eview of published literature.
@nl
prefLabel
Delineating the phenotypic spe ...... eview of published literature.
@en
Delineating the phenotypic spe ...... eview of published literature.
@nl
P2093
P1476
Delineating the phenotypic spe ...... review of published literature
@en
P2093
C Deshpande
J Willoughby
K A Metcalfe
K Chandler
P304
P356
10.1136/JMEDGENET-2016-104360
P407
P577
2017-01-18T00:00:00Z