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Very Short Telomeres in the Peripheral Blood of Patients with X-Linked and Autosomal Dyskeratosis Congenita

โœ Scribed by Tom J Vulliamy; Stuart W Knight; Philip J Mason; Inderjeet Dokal


Book ID
115590119
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
127 KB
Volume
27
Category
Article
ISSN
1079-9796

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## Abstract We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another