Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.
Danarti
Retno
R
Grzeschik
Karl-Heinz
KH
Radiono
Sunardi
S
König
Arne
A
Happle
Rudolf
R
D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000473:pathology; D007223:Infant; D009506:Nevus / Q000151:congenital / Q000235:genetics*; D013577:Syndrome
D018389:Codon, Nonsense; D015096:3-Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human