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A Novel X-Chromosomal Microdeletion Encompassing Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects


Address correspondence to Renu George, M.D., Department of Dermatology, Venereology & Leprosy, Christian Medical College, Ida Scudder Road, Vellore-632004, India, or e-mail:


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.

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