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
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