title: A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
abstract: We report an unusual phenotype of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome most likely resulting from a novel X-chromosomal microdeletion encompassing the promoter region and exon 1 of the nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein gene, the neighboring gene CETN2, and more than 10 kb of noncoding deoxyribonucleic acid.
authors.affiliation: Department of Dermatology, Venereology, and Leprosy, Christian Medical College, Vellore, India.
authors.forename: Tanumay
authors.initials: T
authors.lastname: Raychaudhury
authors.forename: Renu
authors.initials: R
authors.lastname: George
authors.forename: Kausik
authors.initials: K
authors.lastname: Mandal
authors.forename: Vivi M
authors.initials: VM
authors.lastname: Srivastava
authors.forename: Meera
authors.initials: M
authors.lastname: Thomas
authors.forename: Dorothea
authors.initials: D
authors.lastname: Bornholdt
authors.forename: Karl-Heinz
authors.initials: KH
authors.lastname: Grzeschik
authors.forename: Angelika
authors.initials: A
authors.lastname: Koehler
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
chemical_list: D015096:3-Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human