Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip Congenital Lipodystrophy and Brunzell Syndrome: Phenotype Variability Suggests Important Modifier Effects

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder caused by mutations in AGPAT2 and Gng3lg. We screened for mutations in AGPAT2 and Gng3lg in 26 families with CGL and one family with Brunzell syndrome. We found mutations in either AGPAT2 or Gng3lg in all but four prob...

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Xehetasun bibliografikoak
Egile Nagusiak: Fu, Mao, Kazlauskaite, Rasa, Paiva Baracho, Maria De Fátima, Santos, Maria Goretti Do Nascimento, Brandão-Neto, José, Villares, Sandra, Celi, Francesco S., Wajchenberg, Bernardo L., Shuldiner, Alan R.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2004
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3390418/
https://ncbi.nlm.nih.gov/pubmed/15181077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2003-030485
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