European Journal of Human Genetics - Clinical utility gene card for: Gorlin syndrome - update 2013

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European Journal of Human Genetics - Clinical utility gene card for: Gorlin syndrome - update 2013

Clinical Utility Gene Card Update

European Journal of Human Genetics advance online publication 30 January 2013; doi: 10.1038/ejhg.2012.299

Clinical utility gene card for: Gorlin syndrome - update 2013

Lorenzo Lo Muzio^1,6, Lorenza Pastorino^2,6, Sonja Levanat³, Vesna Musani³, Mima Situm⁴, Giovanni Ponti⁵ and Giovanna Bianchi Scarra²

1. ¹Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy


2. ²Laboratory of Rare Hereditary Cancers, University of Genoa, San Martino Hospital, Genova, Italy


3. ³Laboratory for Hereditary Cancer, Division of Molecular Medicine, Rudjer Boskovic Institute, Zagreb, Croatia


4. ⁴Department of Dermato-Venereology, Zagreb University Hospital Center Sisters of Charity, University of Zagreb, Zagreb, Croatia


5. ⁵Department of Clinical and Diagnostic Medicine and Public Health, University Hospital of Modena and Reggio Emilia, Modena, Italy

Correspondence: Professor LL Muzio, Department of Clinical and Experimental Medicine, University of Foggia, Via Carelli 28, 71100 Foggia, Italy. Tel: +39 881 588080; Fax: +39 881 588081; E-mail: llomuzio@tin.it

⁶These authors contributed equally to this study.

Update to: European Journal of Human Genetics (2011) 19, doi:10.1038/ejhg.2011.9; published online 9 February 2011

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1. Disease characteristics

1.1 Name of the disease (synonyms)

Nevoid basal cell carcinoma syndrome, gorlin syndrome, basal cell nevus syndrome.

1.2 OMIM# of the disease

109400.

1.3 Name of the analyzed genes or DNA/chromosome segments

PTCH1.