Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome

American Journal of Medical Genetics, Part A

Volumn 167, Issue 8, 2015, Pages 1796-1806

  Garg, Abhimanyu ^a   Kircher, Martin ^b   del Campo, Miguel ^c   Amato, R Stephen ^d   Agarwal, Anil K ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d UNIVERSITY OF KENTUCKY   (United States)

Author keywords

Cataract; Caveolin 1; Lipodystrophy; Progeroid syndrome; Pulmonary hypertension

Indexed keywords

CAVEOLIN 1; CAV1 PROTEIN, HUMAN;

ARTICLE; BODY FAT DISTRIBUTION; CATARACT; CAUCASIAN; CAV1 GENE; CHILD; CLINICAL ARTICLE; CONGENITAL GENERALIZED LIPODYSTROPHY; CONTROLLED STUDY; CUTIS MARMORATA TELANGIECTATICA CONGENITA; DRY SKIN; FEMALE; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HAIR LOSS; HETEROZYGOSITY; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MALE; PATHOGENESIS; PLEURA EFFUSION; POLYURIA; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SCHOOL CHILD; CELL CULTURE; EXOME; GENETICS; HETEROZYGOTE; LIPODYSTROPHY; MUTATION; NEWBORN; PEDIGREE;

MUS;

CAVEOLIN 1; CELLS, CULTURED; EXOME; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; LIPODYSTROPHY; MALE; MUTATION; PEDIGREE;

EID: 84937970956     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37115     Document Type: Article

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