title: Mutational spectrum of NSDHL in CHILD syndrome.
authors.affiliation: Department of Human Genetics, Philipp University, Marburg, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Bornholdt
authors.forename: A
authors.initials: A
authors.lastname: König
authors.forename: R
authors.initials: R
authors.lastname: Happle
authors.forename: L
authors.initials: L
authors.lastname: Leveleki
authors.forename: M
authors.initials: M
authors.lastname: Bittar
authors.forename: R
authors.initials: R
authors.lastname: Danarti
authors.forename: A
authors.initials: A
authors.lastname: Vahlquist
authors.forename: W
authors.initials: W
authors.lastname: Tilgen
authors.forename: U
authors.initials: U
authors.lastname: Reinhold
authors.forename: A
authors.initials: A
authors.lastname: Poiares Baptista
authors.forename: E
authors.initials: E
authors.lastname: Grosshans
authors.forename: P
authors.initials: P
authors.lastname: Vabres
authors.forename: S
authors.initials: S
authors.lastname: Niiyama
authors.forename: K
authors.initials: K
authors.lastname: Sasaoka
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: A L
authors.initials: AL
authors.lastname: Meiss
authors.forename: P A
authors.initials: PA
authors.lastname: Treadwell
authors.forename: D
authors.initials: D
authors.lastname: Lambert
authors.forename: F
authors.initials: F
authors.lastname: Camacho
authors.forename: K-H
authors.initials: KH
authors.lastname: Grzeschik
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D000293:Adolescent; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D009506:Nevus / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D017384:Sequence Deletion
chemical_list: D015096:3-Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human