Phenotype and genotype in 17 patients with Goltz-Gorlin Syndrome

S M Maas (1) , P M Lombardi (2) , a J van Essen (3) , E L Wakeling (4) , B Castle (5) , I K Temple (6) , V K A Kumar (7) , K Writzl (8) , R C M Hennekam (9)

1 Department of Paediatric Genetics, Academic Medical Centre, Amsterdam
2 Department of Clinical Genetics, Academic Medical Centre, Amsterdam
3 University of Groningen [Groningen]
4 Department of Clinical Genetics, Kennedy-Galton Centre, London
5 Wessex Clinical Genetics Service, Southampton
6 Academic Unit of Genetic Medicine, Southampton
7 Department of Clinical Genetics, Great Ormond Street Hospital, UCL, London
8 Institute of Medical Genetics, Ljubljana
9 Clinical and Molecular Genetics Unit, Institute of Child Health, UCL, London

Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007 mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome.

Mots clés: Clinical genetics; Molecular genetics

S M Maas, P M Lombardi, a J van Essen, E L Wakeling, B Castle, et al.. Phenotype and genotype in 17 patients with Goltz-Gorlin Syndrome. Journal of Medical Genetics, 2009, 46 (10), pp.716. ⟨10.1136/jmg.2009.068403⟩. ⟨hal-00552704⟩