Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome

European Journal of Medical Genetics

Volumn 57, Issue 9, 2014, Pages 524-526

  Dyment, D A ^a   Gibson, W T ^b   Huang, L ^a   Bassyouni, H ^c   Hegele, R A ^d   Innes, A M ^c  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UNIVERSITY OF CALGARY   (Canada)

^d ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

CGL; Congenital generalized lipodystrophy; Diabetes; FPLD; Hypertriglyceridemia; PPARG

Indexed keywords

PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA;

ADULT; ARTICLE; BODY MASS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL GENERALIZED LIPODYSTROPHY; DIABETES MELLITUS; DNA BINDING; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; HAIR DISEASE; HEPATOSPLENOMEGALY; HUMAN; HYPERTRIGLYCERIDEMIA; KIDNEY FAILURE; MEDICAL HISTORY; MENSTRUATION DISORDER; OBESITY; PANCREATITIS; PHENOTYPE; PHYSICAL EXAMINATION; SUBCUTANEOUS FAT; WAIST CIRCUMFERENCE; ALLELE; CHEMICAL STRUCTURE; CHEMISTRY; DNA SEQUENCE; GENETICS; LIPODYSTROPHY, CONGENITAL GENERALIZED; MUTATION; PROTEIN CONFORMATION; PROTEIN DOMAIN;

ADULT; ALLELES; FEMALE; HUMANS; LIPODYSTROPHY, CONGENITAL GENERALIZED; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PPAR GAMMA; PROTEIN CONFORMATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; SEQUENCE ANALYSIS, DNA;

EID: 84925938377     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.06.006     Document Type: Article

References (6)

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