Publication: Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
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Suter, A.-A., Itin, P., Heinimann, K., Ahmed, M., Ashraf, T., Fryssira, H., Kini, U., Lapunzina, P., Miny, P., Sommerlund, M., Suri, M., Vaeth, S., Vasudevan, P., & Gallati, S. (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular Genetics & Genomic Medicine, 4, 359–366. https://doi.org/10.1002/mgg3.209
Abstract
Abstract
Abstract
BACKGROUND
Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma with neutropenia (PN) and Dyskeratosis Congenita (DC), poikiloderma occurs as one of the main symptoms. Here, we report on genotype and phenotype data of a cohort of 44 index patients with RTS or related genodermatoses.
METHODS
DNA samples from 43 patie
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- Suter, Aude-Annick
- Itin, Peter
- Heinimann, Karl
- Ahmed, Munaza
- Ashraf, Tazeen
- Fryssira, Helen
- Kini, Usha
- Lapunzina, Pablo
- Miny, Peter
- Sommerlund, Mette
- Suri, Mohnish
- Vaeth, Signe
- Vasudevan, Pradeep
- Gallati, Sabina
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Suter, A.-A., Itin, P., Heinimann, K., Ahmed, M., Ashraf, T., Fryssira, H., Kini, U., Lapunzina, P., Miny, P., Sommerlund, M., Suri, M., Vaeth, S., Vasudevan, P., & Gallati, S. (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular Genetics & Genomic Medicine, 4, 359–366. https://doi.org/10.1002/mgg3.209
