title: Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.
authors.forename: Retno
authors.initials: R
authors.lastname: Danarti
authors.forename: Karl-Heinz
authors.initials: KH
authors.lastname: Grzeschik
authors.forename: Sunardi
authors.initials: S
authors.lastname: Radiono
authors.forename: Arne
authors.initials: A
authors.lastname: König
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; D015096:3-Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human