Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: Phenotype variability suggests important modifier effects

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 6, 2004, Pages 2916-2922

  Fu, Mao ^a   Kazlauskaite, Rasa ^c   Baracho, Maria De Fátima Paiva ^d   Do Nascimento Santos, Maria Goretti ^d   Brandão Neto, José ^d   Villares, Sandra ^e   Celi, Francesco S ^a   Wajchenberg, Bernardo L ^e   Shuldiner, Alan R ^a,b  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b BALTIMORE VA MEDICAL CENTER   (United States)

^c Jr Hospital of Cook County   (United States)

^d FEDERAL UNIVERSITY OF RIO GRANDE DO NORTE   (Brazil)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL GENERALIZED LIPODYSTROPHY; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMANGIOMATOSIS; HOMOZYGOSITY; HUMAN; LIPODYSTROPHY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SIBLING; SITE DIRECTED MUTAGENESIS;

1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE; ACYLTRANSFERASES; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; FRAMESHIFT MUTATION; GTP-BINDING PROTEIN GAMMA SUBUNITS; HOMOZYGOTE; HUMANS; INFANT; LIPODYSTROPHY; MALE; PHENOTYPE; POLYMORPHISM, GENETIC; RNA SPLICE SITES;

EID: 2942638044     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030485     Document Type: Conference Paper

References (20)

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