Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

American Journal of Human Genetics

Volumn 98, Issue 3, 2016, Pages 579-587

  Bennett, James T ^a,b   Tan, Tiong Yang ^c   Alcantara, Diana ^d   Tétrault, Martine ^e   Timms, Andrew E ^b   Jensen, Dana ^b   Collins, Sarah ^b   Nowaczyk, Malgorzata J M ^f   Lindhurst, Marjorie J ^g   Christensen, Katherine M ^h   Braddock, Stephen R ^h   Brandling Bennett, Heather ^a   Hennekam, Raoul C M ⁱ   Chung, Brian ^j   Lehman, Anna ^k   Su, John ^l   Ng, Suyuen ^l   Amor, David J ^c   Majewski, Jacek ^e   Biesecker, Les G ^g   Boycott, Kym M ^m   Dobyns, William B ^a,b   O'Driscoll, Mark ^d   Moog, Ute ⁿ   McDonell, Laura M ^m   more..

^a UNIVERSITY OF WASHINGTON   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF SUSSEX   (United Kingdom)

^e MCGILL UNIVERSITY   (Canada)

^f MCMASTER UNIVERSITY   (Canada)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^h SSM Cardinal Glennon Children's Medical Center   (United States)

ⁱ UNIVERSITY OF AMSTERDAM   (Netherlands)

^j UNIVERSITY OF HONG KONG   (Hong Kong)

^k UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^l MONASH UNIVERSITY   (Australia)

^m CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

ⁿ UNIVERSITY OF HEIDELBERG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 1; GLUTAMIC ACID; LYSINE; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; PROTEIN TYROSINE KINASE; RAF PROTEIN; FGFR1 PROTEIN, HUMAN; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPHOSPHORYLATION; BINDING SITE; CHILD; CLINICAL ARTICLE; DNA DETERMINATION; ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; FEMALE; FIBROBLAST CULTURE; HUMAN; MALE; MISSENSE MUTATION; MOSAICISM; PHAKOMATOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RARE DISEASE; SCHOOL CHILD; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SOMATIC MUTATION; WESTERN BLOTTING; CENTRAL NERVOUS SYSTEM NEOPLASMS; DNA SEQUENCE; EXOME; EYE; EYE DISEASES; GENETICS; INFANT; LIPOMATOSIS; METABOLISM; MUTATION; NEUROCUTANEOUS SYNDROMES; PATHOPHYSIOLOGY; SEIZURE; TUMOR CELL LINE;

ADOLESCENT; CELL LINE, TUMOR; CENTRAL NERVOUS SYSTEM NEOPLASMS; CHILD, PRESCHOOL; EXOME; EYE; EYE DISEASES; FEMALE; HUMANS; INFANT; LIPOMATOSIS; MALE; MUTATION; MUTATION, MISSENSE; NEUROCUTANEOUS SYNDROMES; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS C-AKT; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; SEIZURES; SEQUENCE ANALYSIS, DNA;

EID: 84959911385     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.02.006     Document Type: Article

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