Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7.
Hehr
U
U
Dörr
S
S
Hagemann
M
M
Hansmann
I
I
Preiss
U
U
Brömme
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004392:Dwarfism / Q000235:genetics*; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D018392:Genomic Imprinting; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D009035:Mothers; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D013577:Syndrome
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator