Dysmorphic findings in two cases of abeta/hypobetalipoproteinemia.
Solomon
Benjamin D
BD
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Departments of Gastroenterology Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA.
Mohan
Parvathi
P
Tifft
Cynthia J
CJ
D016229:Amyloid beta-Peptides / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000175:diagnosis / Q000235:genetics*; D007223:Infant
D016229:Amyloid beta-Peptides