European Journal of Human Genetics - Clinical utility gene card for: Rothmund-Thomson syndrome

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European Journal of Human Genetics - Clinical utility gene card for: Rothmund-Thomson syndrome

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 28 November 2012; doi: 10.1038/ejhg.2012.260

Clinical utility gene card for: Rothmund–Thomson syndrome

Lidia Larizza¹, Gaia Roversi² and Alain Verloes³

1. ¹Dipartimento di Scienze della Salute, University of Milan, Milan, Italy
2. ²Dipartimento di Chirurgia e Medicina Interdisciplinare, University of Milan-Bicocca, Monza, Italy
3. ³Departement of Genetics, Hopital Robert DEBRE, Paris, France

Correspondence: Professor L Larizza, Deptartment of Health Sciences, University of Milan, Via A. di Rudinì 8, Milano 20142, Italy. Tel: +39 02 5032 3206; Fax: +39 02 5032 3026; E-mail: lidia.larizza@unimi.it

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1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Rothmund–Thomson syndrome

Poikiloderma atrophicans with cataract

1.2 OMIM# of the disease

#268400

1.3 Name of the analyzed genes or DNA/chromosome segments

RECQL4 (RECQ-like, type 4), RECQ4