A recurrent PDGFRB mutation causes familial infantile myofibromatosis

American Journal of Human Genetics

Volumn 92, Issue 6, 2013, Pages 996-1000

  Cheung, Yee Him ^a   Gayden, Tenzin ^b   Campeau, Philippe M ^c   Leduc, Charles A ^a   Russo, Donna ^a   Nguyen, Van Hung ^d   Guo, Jiancheng ^a   Qi, Ming ^e,f,g   Guan, Yanfang ^g   Albrecht, Steffen ^d   Moroz, Brenda ^d   Eldin, Karen W ^c   Lu, James T ^c   Schwartzentruber, Jeremy ^b   Malkin, David ^h   Berghuis, Albert M ^b   Emil, Sherif ^d   Gibbs, Richard A ^c   Burk, David L ^b   Vanstone, Megan ⁱ   Lee, Brendan H ^c,j   Orchard, David ^k   Boycott, Kym M ⁱ   Chung, Wendy K ^a   Jabado, Nada ^b,l   more..

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d MONTREAL CHILDREN S HOSPITAL   (Canada)

^e ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^f UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^g BGI SHENZHEN   (China)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^j HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^k ROYAL CHILDREN'S HOSPITAL   (Australia)

^l RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PLATELET DERIVED GROWTH FACTOR BETA RECEPTOR;

ARTICLE; BLOOD VESSEL; CLINICAL FEATURE; EXOME; FAMILIAL DISEASE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; INFANT DISEASE; LEIOMYOMA; MESENCHYME CELL; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SMOOTH MUSCLE; SOMATIC MUTATION;

AMINO ACID SEQUENCE; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; MYOFIBROMATOSIS; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR BETA; RECEPTORS, NOTCH; SEQUENCE ANALYSIS, DNA;

EID: 84878865983     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.04.026     Document Type: Article

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