SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling

American Journal of Human Genetics

Volumn 93, Issue 1, 2013, Pages 150-157

  Chudasama, Kishan Kumar ^a,b   Winnay, Jonathon ^c   Johansson, Stefan ^a,b   Claudi, Tor ^d   König, Rainer ^e   Haldorsen, Ingfrid ^a   Johansson, Bente ^a   Woo, Ju Rang ^c   Aarskog, Dagfinn ^a   Sagen, Jørn V ^a,b   Kahn, C Ronald ^c   Molven, Anders ^a,b,c   Njølstad, Pål Rasmus ^a,b,f  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c HARVARD MEDICAL SCHOOL   (United States)

^d Nordlandssykehuset ^*  (Norway)

^e GOETHE UNIVERSITY   (Germany)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN; PHOSPHATIDYLINOSITOL 3 KINASE;

ADULT; AGED; ARTICLE; BODY MASS; CLINICAL ARTICLE; ENZYME ACTIVITY; EXOME; FEMALE; GENE INACTIVATION; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; GROWTH RETARDATION; HUMAN; LIPODYSTROPHY; MALE; MULTIPLE MALFORMATION SYNDROME; PRIORITY JOURNAL; PROADIPOCYTE; RIEGER SYNDROME; SHORT STATURE; SHORT SYNDROME; SIGNAL TRANSDUCTION;

ADIPOCYTES; ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; BODY MASS INDEX; CELL DIFFERENTIATION; CLASS IA PHOSPHATIDYLINOSITOL 3-KINASE; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; EXOME; FEMALE; FIBROBLASTS; GENE KNOCKOUT TECHNIQUES; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; GROWTH DISORDERS; HETEROZYGOTE DETECTION; HUMANS; HYPERCALCEMIA; INSULIN RECEPTOR SUBSTRATE PROTEINS; MALE; METABOLIC DISEASES; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NEPHROCALCINOSIS; PEDIGREE; SIGNAL TRANSDUCTION; SRC HOMOLOGY DOMAINS; YOUNG ADULT;

EID: 84880251974     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.05.023     Document Type: Article

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