Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene

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 neutropeni...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867568/
https://www.ncbi.nlm.nih.gov/pubmed/27247962
http://dx.doi.org/10.1002/mgg3.209

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