Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation
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Mutation of POC1B in a severe syndromic retinal ciliopathyReport of the 10th Annual International Pachyonychia Congenita Consortium MeetingLINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in MiceGenetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaAdvances in Skeletal Dysplasia GeneticsTetrahymena Poc1 ensures proper intertriplet microtubule linkages to maintain basal body integrity.Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersGenetic rescue of an endangered domestic animal through outcrossing with closely related breeds: A case study of the Norwegian LundehundTruncation of POC1A associated with short stature and extreme insulin resistanceTowards identification of molecular mechanisms of short stature.Osteopetrosis: genetics, treatment and new insights into osteoclast function.Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.Genetics of Short Stature.MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation.Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.SOFT Syndrome: The First Case in Iran
P2860
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P2860
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
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2012年论文
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2012年论文
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name
Short stature, onychodysplasia ...... is caused by a POC1A mutation
@ast
Short stature, onychodysplasia ...... is caused by a POC1A mutation
@en
type
label
Short stature, onychodysplasia ...... is caused by a POC1A mutation
@ast
Short stature, onychodysplasia ...... is caused by a POC1A mutation
@en
prefLabel
Short stature, onychodysplasia ...... is caused by a POC1A mutation
@ast
Short stature, onychodysplasia ...... is caused by a POC1A mutation
@en
P2093
P2860
P50
P1476
Short stature, onychodysplasia ...... is caused by a POC1A mutation
@en
P2093
Dana Fuchs-Telem
Debora Rapaport
Eli Sprecher
Gilly Padalon-Brauch
Janna Nousbeck
Ksenya Cohen-Katsenelson
Mia Horowitz
Ofer Sarig
Sagi Nahum
P2860
P304
P356
10.1016/J.AJHG.2012.06.003
P407
P577
2012-07-26T00:00:00Z