Article
The mutation spectrum in RECQL4 diseases.
European journal of human genetics : EJHG - 1 Feb 2009
Siitonen H Annika, Sotkasiira Jenni, Biervliet Martine, Benmansour Abdelmadjid, Capri Yline, Cormier-Daire Valerie, Crandall Barbara, Hannula-Jouppi Katariina, Hennekam Raoul, Herzog Denise, Keymolen Kathelijn, Lipsanen-Nyman Marita, Miny Peter, Plon Sharon E, Riedl Stefan, Sarkar Ajoy, Vargas Fernando R, Verloes Alain, Wang Lisa L, Kääriäinen Helena, Kestilä Marjo
Abstract excerpt
Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4...
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