Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.

Van Maldergem, L

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. [electronic resource] - Journal of medical genetics Oct 2002 - 722-33 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmg.39.10.722 doi


Adolescent
Adult
Age of Onset
Alleles
Cohort Studies
Female
GTP-Binding Protein gamma Subunits
Genotype
Heterotrimeric GTP-Binding Proteins--genetics
Humans
Hyperlipidemias--genetics
Infant
Infant, Newborn
Lipodystrophy--congenital
Male
Mutation--genetics
Pedigree
Phenotype
Protein Isoforms--genetics