title: Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia.
authors.affiliation: Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, WC1N 3JH, U.K.
authors.forename: A
authors.initials: A
authors.lastname: Estapé
authors.affiliation: Department of Genetics, Guy's Hospital, London, U.K.
authors.forename: D
authors.initials: D
authors.lastname: Josifova
authors.affiliation: Department of Paediatric Histopathology, Great Ormond Street Hospital for Children, London, WC1N 3JH, U.K.
authors.forename: D
authors.initials: D
authors.lastname: Rampling
authors.affiliation: Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, WC1N 3JH, U.K.
authors.forename: M
authors.initials: M
authors.lastname: Glover
authors.affiliation: Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, WC1N 3JH, U.K.|Genetics and Genomic Medicine, UCL Institute of Child Health, London, U.K.
authors.forename: V A
authors.initials: VA
authors.lastname: Kinsler
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology*; D018095:Germ-Line Mutation / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics / Q000473:pathology*; D007642:Keratosis / Q000235:genetics / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology*