title: CHILD syndrome with minimal limb abnormalities.
authors.affiliation: Department of Dermatology, Hospital Niño Jesús, Madrid, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Noguera-Morel
authors.affiliation: Department of Dermatology, Hospital Niño Jesús, Madrid, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Hernández-Ostiz
authors.affiliation: Department of Dermatology, Hospital Barbanza, EOXI, Santiago de Compostela, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Casas-Fernández
authors.affiliation: Department of Dermatology, Hospital Niño Jesús, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Hernández-Martín
authors.affiliation: Department of Dermatology, Hospital Barbanza, EOXI, Santiago de Compostela, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Rodríguez-Blanco
authors.affiliation: Department of Dermatology, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Requena
authors.affiliation: Institute for Human Genetics, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Hotz
authors.affiliation: Institute for Human Genetics, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Fischer
authors.affiliation: Department of Dermatology, Hospital Niño Jesús, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Torrelo
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics; D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D018389:Codon, Nonsense; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics / Q000473:pathology*; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology*
chemical_list: D018389:Codon, Nonsense; D015096:3-Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human