Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.
about
New functional aspects of the extracellular calcium-sensing receptorGenetics and genomics in Thailand: challenges and opportunitiesFurther delineation of the SATB2 phenotype.Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1.Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
P2860
Q26825557-EE0A76A9-10F7-4A6E-A0F9-C4F90DBFE50BQ28658627-B68211F9-ADEE-4CAE-9B55-0A016E9D89F2Q35150491-D6E12133-08DF-4ED5-83D1-32B21848A761Q39111257-D89023C9-2EE0-470F-900C-5365ED9F2AA0Q41773573-3BE740DF-4C4E-49BB-825C-F21647AF8058Q52127982-96501662-87B4-49E4-8643-7D3F64060C50Q52676042-13E295EB-D701-432B-8197-8AB34FE8694DQ54719795-B59F3C96-9702-4DC5-92C0-CE8AFA84D1B0
P2860
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.
description
2013 nî lūn-bûn
@nan
2013 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
name
Disorders with similar clinica ...... n activator of the UPF3B gene.
@ast
Disorders with similar clinica ...... n activator of the UPF3B gene.
@en
Disorders with similar clinica ...... n activator of the UPF3B gene.
@nl
type
label
Disorders with similar clinica ...... n activator of the UPF3B gene.
@ast
Disorders with similar clinica ...... n activator of the UPF3B gene.
@en
Disorders with similar clinica ...... n activator of the UPF3B gene.
@nl
prefLabel
Disorders with similar clinica ...... n activator of the UPF3B gene.
@ast
Disorders with similar clinica ...... n activator of the UPF3B gene.
@en
Disorders with similar clinica ...... n activator of the UPF3B gene.
@nl
P2093
P2860
P1433
P1476
Disorders with similar clinica ...... an activator of the UPF3B gene
@en
P2093
Andrew R Cullinane
Chalurmpon Srichomthong
Heidi Dorward
Kanya Suphapeetiporn
Marjan Huizing
Petcharat Leoyklang
Siraprapa Tongkobpetch
Stefanie Fietze
William A Gahl
P2860
P2888
P304
P356
10.1007/S00439-013-1345-9
P577
2013-08-08T00:00:00Z
P6179
1031815522