Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development

American Journal of Human Genetics

Volumn 85, Issue 5, 2009, Pages 593-605

  Urban, Zsolt ^a   Hucthagowder, Vishwanathan ^a   Schürmann, Nura ^a   Todorovic, Vesna ^b   Zilberberg, Lior ^b   Choi, Jiwon ^c   Sens, Carla ^a   Brown, Chester W ^d   Clark, Robin D ^e   Holland, Kristen E ^f   Marble, Michael ^g,h   Sakai, Lynn Y ⁱ   Dabovic, Branka ^b   Rifkin, Daniel B ^b   Davis, Elaine C ^c  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MCGILL UNIVERSITY   (Canada)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e LOMA LINDA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f MEDICAL COLLEGE OF WISCONSIN   (United States)

^g LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h CHILDREN S HOSPITAL   (United States)

ⁱ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 4; MESSENGER RNA; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

ARTICLE; ARTIFICIAL VENTILATION; ATELECTASIS; BRONCHOSCOPY; CARDIOVASCULAR DISEASE; CASE REPORT; CELL CULTURE; CRANIOFACIAL MALFORMATION; DIAPHRAGM HERNIA; DIVERTICULOSIS; EXTRACELLULAR MATRIX; FIBROBLAST; GASTROINTESTINAL MALFORMATION; GASTROSTOMY; GENE MUTATION; GENETIC IDENTIFICATION; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; HYDRONEPHROSIS; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; INFANT; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 4 GENE; LUNG CYST; MUSCULOSKELETAL DISEASE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATENT FORAMEN OVALE; PHYSICAL EXAMINATION; PNEUMONIA; PREMATURITY; PRIORITY JOURNAL; PULMONARY ARTERY STENOSIS; RADIODIAGNOSIS; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; SYNDROME; TRACHEOMALACIA;

CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; COCULTURE TECHNIQUES; CULTURE MEDIA, CONDITIONED; DERMIS; DNA; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INTESTINES; LATENT TGF-BETA BINDING PROTEINS; LUNG; MALE; MUSCULOSKELETAL SYSTEM; MUTATION; PROTEIN STRUCTURE, TERTIARY; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SKIN; SYNDROME; URINARY TRACT;

EID: 71849092773     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.09.013     Document Type: Article

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