Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
about
The ciliopathy gene Rpgrip1l is essential for hair follicle development.Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.Role for the IFT-A Complex in Selective Transport to the Primary Cilium.Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein-coupled receptors.Cilia and coordination of signaling networks during heart development.Role of cilia in structural birth defects: insights from ciliopathy mutant mouse models.An approach to cystic kidney diseases: the clinician's view.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Ciliopathies: Genetics in Pediatric Medicine.Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.The G protein-coupled receptor Gpr161 regulates forelimb formation, limb patterning and skeletal morphogenesis in a primary cilium-dependent manner.Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.Autopsy observations in lethal short-rib polydactyly syndromes.Prenatal sonographic features of cranioectodermal dysplasia.Orthotopic liver transplantation for Sensenbrenner syndrome.Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.Identification of five novel genetic loci related to facial morphology by genome-wide association studies.Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum
P2860
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P2860
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
description
2013 nî lūn-bûn
@nan
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
2013年學術文章
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2013年學術文章
@zh-hant
name
Sensenbrenner syndrome (Cranio ...... ts including two new patients.
@en
Sensenbrenner syndrome
@nl
type
label
Sensenbrenner syndrome (Cranio ...... ts including two new patients.
@en
Sensenbrenner syndrome
@nl
prefLabel
Sensenbrenner syndrome (Cranio ...... ts including two new patients.
@en
Sensenbrenner syndrome
@nl
P2093
P2860
P356
P1476
Sensenbrenner syndrome (Cranio ...... ts including two new patients.
@en
P2093
Angela E Lin
Avram Z Traum
Heleen H Arts
Inderneel Sahai
Margaret P Adam
Mary K Kukolich
Sjirk J Westra
P2860
P304
P356
10.1002/AJMG.A.36265
P407
P577
2013-10-03T00:00:00Z