LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

Human Mutation

Volumn 33, Issue 8, 2012, Pages 1182-1187

  Haji Seyed Javadi, Ramona ^a   Jelodari Mamaghani, Sahar ^a   Paylakhi, Seyed Hassan ^b   Yazdani, Shahin ^c   Nilforushan, Naveed ^d   Fan, Jian Bing ^e   Klotzle, Brandy ^e   Mahmoudi, Mohammad Jafar ^f   Ebrahimian, Mohammad Jafar ^g   Chelich, Noori ^g   Taghiabadi, Ehsan ^h   Kamyab, Kambiz ⁱ   Boileau, Catherine ^j   Paisan Ruiz, Coro ^k   Ronaghi, Mostafa ^e   Elahi, Elahe ^a  

^a UNIVERSITY OF TEHRAN   (Iran)

^b DAMGHAN UNIVERSITY   (Iran)

^c SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e ILLUMINA INC   (United States)

^f TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g BAQIYATALLAH UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^h ROYAN INSTITUTE FOR REPRODUCTIVE BIOMEDICINE   (Iran)

ⁱ TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^j HÔPITAL AMBROISE PARÉ   (France)

^k MOUNT SINAI SCHOOL OF MEDICINE   (United States)

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Author keywords

Extracellular matrix; LTBP2; Marfan syndrome; Microfibrils; Weill Marchesani syndrome

Indexed keywords

BINDING PROTEIN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRON MICROSCOPY; EXTRACELLULAR MATRIX; FEMALE; FLUORESCENCE MICROSCOPY; FUNNEL CHEST; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; MARFAN SYNDROME; MICROSCOPY; MITRAL VALVE PROLAPSE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; WEILL MARCHESANI SYNDROME;

EXTRACELLULAR MATRIX; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; LATENT TGF-BETA BINDING PROTEINS; MALE; MICROFIBRILS; MUTATION; WEILL-MARCHESANI SYNDROME;

EID: 84863869582     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22105     Document Type: Article

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