A Novel X-Chromosomal Microdeletion Encompassing Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Article first published online: 4 APR 2012
© 2012 Wiley Periodicals, Inc.
Volume 30, Issue 2, pages 250–252, March/April 2013
How to Cite
Raychaudhury, T., George, R., Mandal, K., Srivastava, V. M., Thomas, M., Bornholdt, D., Grzeschik, K.-H. and Koehler, A. (2013), A Novel X-Chromosomal Microdeletion Encompassing Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects. Pediatric Dermatology, 30: 250–252. doi: 10.1111/j.1525-1470.2012.01729.x
- Issue published online: 6 MAR 2013
- Article first published online: 4 APR 2012
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.