Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
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.Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome.
P2860
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Bainbridge-Ropers syndrome cau ...... XL3: a recognizable condition.
@en
type
label
Bainbridge-Ropers syndrome cau ...... XL3: a recognizable condition.
@en
prefLabel
Bainbridge-Ropers syndrome cau ...... XL3: a recognizable condition.
@en
P2093
P2860
P50
P356
P1476
Bainbridge-Ropers syndrome cau ...... XL3: a recognizable condition.
@en
P2093
Alma Kuechler
Dagmar Wieczorek
Elisabeth Graf
Hartmut Engels
Hermann-Josef Lüdecke
Ingrid Bader
Jean-Baptiste Rivière
Johanna Christina Czeschik
Johannes Koch
Laurence Faivre
P2860
P2888
P304
P356
10.1038/EJHG.2016.165
P577
2016-11-30T00:00:00Z
P6179
1040485220