title: Large deletions in the NSDHL gene in two patients with CHILD syndrome.
authors.affiliation: Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Yang
authors.forename: Britta
authors.initials: B
authors.lastname: Hartmann
authors.forename: Zhe
authors.initials: Z
authors.lastname: Xu
authors.forename: Lin
authors.initials: L
authors.lastname: Ma
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
authors.forename: Nina
authors.initials: N
authors.lastname: Schlipf
authors.forename: Li-Xin
authors.initials: LX
authors.lastname: Zhang
authors.forename: Zi-Gang
authors.initials: ZG
authors.lastname: Xu
authors.forename: Zhao-Yang
authors.initials: ZY
authors.lastname: Wang
authors.forename: Judith
authors.initials: J
authors.lastname: Fischer
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D007223:Infant; D017880:Limb Deformities, Congenital / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D015096:3-Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human