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Parkes-Weber syndrome related to RASA1 mosaic mutation.
Boccara, Olivia; Eyries, Mélanie; Pannier, Stéphanie; Ariche-Maman, Sonia; Hadj-Rabia, Smail; Coulet, Florence.
Affiliation
  • Boccara O; Department of Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Paris University, Imagine Institute, Necker-Enfants Malades University Hospital, APHP5, Paris, France.
  • Eyries M; Department of Genetics, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, APHP, Sorbonne Université, Paris, France.
  • Pannier S; Department of orthopedic surgery, Paris University, Imagine Institute, Necker-Enfants Malades University Hospital, APHP5, Paris, France.
  • Ariche-Maman S; Department of pediatric radiology, Paris University, Imagine Institute, Necker-Enfants Malades University Hospital, APHP5, Paris, France.
  • Hadj-Rabia S; Department of Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Paris University, Imagine Institute, Necker-Enfants Malades University Hospital, APHP5, Paris, France.
  • Coulet F; Department of Genetics, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, APHP, Sorbonne Université, Paris, France.
Clin Genet ; 99(2): 330-331, 2021 02.
Article in En | MEDLINE | ID: mdl-33118152

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sturge-Weber Syndrome / P120 GTPase Activating Protein / Mutation Type of study: Prognostic_studies Limits: Humans / Newborn Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: France Country of publication: Denmark

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sturge-Weber Syndrome / P120 GTPase Activating Protein / Mutation Type of study: Prognostic_studies Limits: Humans / Newborn Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: France Country of publication: Denmark