Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype
about
sameAs
Congenital contractural arachnodactyly (Beals syndrome)Essential role for fibrillin-2 in zebrafish notochord and vascular morphogenesisThe molecular genetics of Marfan syndrome and related disordersFibrillins in TendonComprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureElastic fibres are broadly distributed in tendon and highly localized around tenocytes.Human Splicing Finder: an online bioinformatics tool to predict splicing signals.A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.Unique sex-based approach identifies transcriptomic biomarkers associated with non-syndromic craniosynostosis.Ocular phenotype of Fbn2-null mice.Vascular extracellular matrix and arterial mechanics.Biological functions of fucose in mammals.Microfibrils, elastin fibres and collagen fibres in the human intervertebral disc and bovine tail disc.Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate.Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder.The De Barsy syndrome.The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3.Calcium-Binding EGF-Like Domains
P2860
Q21093174-9148982D-5869-459D-957C-27A7A06BD953Q24608680-0D092576-4577-45BB-BF4C-133A2CEDC3A7Q24656172-FEE99A19-B477-4559-ACB5-87D1D0ECC615Q28067388-F8CA8D84-955C-40B8-A444-B0FB6FC6A557Q28300718-3F3BF3A8-88B2-47BF-89CC-4D2E3E9DCA43Q34339334-10DC868C-233C-4946-9A35-592C16513EC3Q34973311-F4DDDCA8-56EE-4B4F-BA51-E7355BDA2818Q35178445-54A47F8E-FADF-4B48-B2ED-BCF8EDDBC1CBQ35995113-DD05E4A6-37CF-46BB-BD07-3C6958112A84Q37277186-8E87F9FD-697E-4E35-90F8-86AD753EE3FCQ37416984-272000A9-6900-4996-842F-924B8457EF5DQ39254939-F2573DAA-D794-4C28-8743-9FD13F57CB6DQ39793330-83F88FF4-3ADC-4930-BC05-59C611FD02D0Q40143120-EFB9D05A-A7EB-42C6-80DF-078406AD42F0Q44495657-FD383B76-38FA-491D-ADF6-B9A8A6223FB0Q45031803-7074B6DE-0F8E-4A80-969F-E0F0138F7C71Q48073221-CDF12718-269C-488F-BFAE-DA7DEADE93CAQ48312533-2FAAEDAC-C46B-4A93-96A8-FA8D43DAB836Q51932580-5B84698F-A5D6-4B6A-8CE9-269033403565Q57521645-660490C7-334E-40CB-9E7B-3D0B3885D3C2
P2860
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Ten novel FBN2 mutations in co ...... genesis and clinical phenotype
@ast
Ten novel FBN2 mutations in co ...... genesis and clinical phenotype
@en
Ten novel FBN2 mutations in co ...... genesis and clinical phenotype
@nl
type
label
Ten novel FBN2 mutations in co ...... genesis and clinical phenotype
@ast
Ten novel FBN2 mutations in co ...... genesis and clinical phenotype
@en
Ten novel FBN2 mutations in co ...... genesis and clinical phenotype
@nl
prefLabel
Ten novel FBN2 mutations in co ...... genesis and clinical phenotype
@ast
Ten novel FBN2 mutations in co ...... genesis and clinical phenotype
@en
Ten novel FBN2 mutations in co ...... genesis and clinical phenotype
@nl
P2093
P2860
P921
P3181
P356
P1433
P1476
Ten novel FBN2 mutations in co ...... genesis and clinical phenotype
@en
P2093
Anne Child
Beat Steinmann
Catherine Vincent Delorme
Cesare Danesino
Dianna M Milewicz
Elizabeth A Putnam
Emily Chen
Ilkka Kaitila
Kay Metcalfe
Lesley C Adès
P2860
P3181
P356
10.1002/HUMU.10017
P407
P577
2002-01-01T00:00:00Z