title: Familial hypercholesterolaemia--a case report.
abstract: A case report of a 9-year-old female presenting with cutaneous xanthoma and other findings suggestive of homozygous familial hypercholesterolaemia along with abnormalities in serum lipid profile in other siblings is presented in view of its rarity.
authors.affiliation: Department of Biochemistry, Medical College, Kolkata 700073.
authors.forename: C
authors.initials: C
authors.lastname: Basu Mullick
authors.forename: Bandita
authors.initials: B
authors.lastname: Basu Das
authors.forename: Sourangsu
authors.initials: S
authors.lastname: Chatterjee
authors.forename: Gorachand
authors.initials: G
authors.lastname: Bhattacharya
authors.forename: Shyamali
authors.initials: S
authors.lastname: Biswas
mesh_terms: D002648:Child; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics; D008297:Male; D011973:Receptors, LDL / Q000235:genetics; D035781:Siblings; D014973:Xanthomatosis / Q000175:diagnosis / Q000235:genetics
chemical_list: D011973:Receptors, LDL