Patient with recurrent mosaic KRAS variant: Rare oculoectodermal syndrome with severe neurologic phenotype.

Ververi, Athina; Laidou, Stamatia; Chatzidimitriou, Anastasia; Gidaris, Dimos; Mataftsi, Asimina; Kozeis, Nikolaos; Fidani, Liana; Zafeiriou, Dimitrios Ioannis

Ververi, Athina; Laidou, Stamatia; Chatzidimitriou, Anastasia; Gidaris, Dimos; Mataftsi, Asimina; Kozeis, Nikolaos; Fidani, Liana; Zafeiriou, Dimitrios Ioannis.

Afiliação

Ververi A; Genetic Unit, 1st Department of Obstetrics & Gynaecology, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece.
Laidou S; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece.
Chatzidimitriou A; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece.
Gidaris D; University of Nicosia Medical School, Nicosia, Cyprus.
Mataftsi A; 2nd Department of Ophthalmology, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece.
Kozeis N; Ophthalmica Institute of Ophthalmology and Microsurgery, Thessaloniki, Greece.
Fidani L; 2nd Department of Pediatrics, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece.
Zafeiriou DI; Department of Medical Biology Genetics, Aristotle University of Thessaloniki, Thessaloniki, Greece.

J Dermatol ; 49(10): e381-e382, 2022 10.

Article em En | MEDLINE | ID: mdl-35593416

Assuntos

Cisto Dermoide; Displasia Ectodérmica; Displasia Ectodérmica/diagnóstico; Displasia Ectodérmica/genética; Humanos; Mutação; Fenótipo; Proteínas Proto-Oncogênicas p21(ras)/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Cisto Dermoide Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Dermatol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Grécia

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