Ontology highlight
ABSTRACT:
SUBMITTER: Pinna V
PROVIDER: S-EPMC4795103 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Pinna Valentina V Lanari Valentina V Daniele Paola P Consoli Federica F Agolini Emanuele E Agolini Emanuele E Margiotti Katia K Bottillo Irene I Torrente Isabella I Bruselles Alessandro A Fusilli Caterina C Ficcadenti Anna A Bargiacchi Sara S Trevisson Eva E Forzan Monica M Giustini Sandra S Leoni Chiara C Zampino Giuseppe G Digilio Maria Cristina MC Dallapiccola Bruno B Clementi Maurizio M Tartaglia Marco M De Luca Alessandro A
European journal of human genetics : EJHG 20141105 8
Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of neurofibromatosis type 1 (NF1) allowed to identify the heterozygous c.5425C>T missense variant (p.Arg1809Cys) in six (0.7%) unrelated probands (three familial and three sporadic cases), all exhibiting a mild form of disease. Detailed clinical characterization of these subjects and other eight affected relatives showed that all individuals had multiple cafè-au-lait spots, frequently associated with skinfold freckling, but a ...[more]