Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
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The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineagesClosing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape DeterminationComplete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 lossHeterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.Invadosomes are coming: new insights into function and disease relevance.Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes.Tks adaptor proteins at a glance.ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.
P2860
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P2860
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
@ast
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
@en
type
label
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
@ast
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
@en
prefLabel
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
@ast
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
@en
P2093
P2860
P50
P3181
P356
P1476
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
@en
P2093
Catherine J Bromhead
Elizabeth Fitzpatrick
Gabrielle R Wilson
Jasmine Sunley
Katherine R Smith
Maja Di Rocco
Martin B Delatycki
Melanie Bahlo
Richard J Leventer
P2860
P2888
P304
P3181
P356
10.1038/EJHG.2013.229
P577
2013-10-09T00:00:00Z
P5875
P6179
1019329468