Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).
Fajans
S S
SS
Bell
G I
GI
D001724:Birth Weight / Q000235:genetics; D018389:Codon, Nonsense; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000235:genetics; D005260:Female; D005320:Fetal Macrosomia / Q000453:epidemiology / Q000235:genetics*; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics*; D006801:Humans; D007003:Hypoglycemia / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D008824:Michigan; D010375:Pedigree; D011247:Pregnancy; D015995:Prevalence; D012189:Retrospective Studies
D018389:Codon, Nonsense; C496592:HNF4A protein, human; D051557:Hepatocyte Nuclear Factor 4