Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

Item
http://www.wikidata.org/entity/Q28300718
ADAMTS proteins as modulators of microfibril formation and functionRare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisRare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.Arachnodactyly--a key to diagnosing heritable disorders of connective tissue.A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic DiseaseAMC: amyoplasia and distal arthrogryposis.Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactylyOcular phenotype of Fbn2-null mice.Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.Biological functions of fucose in mammals.Seizures as an Atypical Feature of Beal's Syndrome.Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect.Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder.Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis
P2860

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

Item
http://www.wikidata.org/entity/Q28300718
description
2009 nî lūn-bûn
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2009 թուականի Մարտին հրատարակուած գիտական յօդուած
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2009 թվականի մարտին հրատարակված գիտական հոդված
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2009年の論文
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2009年論文
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2009年論文
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2009年論文
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2009年論文
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2009年論文
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2009年论文
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name
Comprehensive clinical and mol ...... s and review of the literature
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Comprehensive clinical and mol ...... s and review of the literature
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Comprehensive clinical and mol ...... s and review of the literature
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type
label
Comprehensive clinical and mol ...... s and review of the literature
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Comprehensive clinical and mol ...... s and review of the literature
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Comprehensive clinical and mol ...... s and review of the literature
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prefLabel
Comprehensive clinical and mol ...... s and review of the literature
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Comprehensive clinical and mol ...... s and review of the literature
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Comprehensive clinical and mol ...... s and review of the literature
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Comprehensive clinical and mol ...... s and review of the literature
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