Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant.

Öztürk, Nuray; Karamik, Gökcen; Mutlu, Hatice; Bayer, Öznur Yilmaz; Mihçi, Ercan; Çetin, Gökhan Ozan; Nur, Banu

Öztürk, Nuray; Karamik, Gökcen; Mutlu, Hatice; Bayer, Öznur Yilmaz; Mihçi, Ercan; Çetin, Gökhan Ozan; Nur, Banu.

Afiliação

Öztürk N; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya.
Karamik G; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya.
Mutlu H; Department of Pediatric Genetics, Ankara University Faculty of Medicine, Ankara.
Bayer ÖY; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya.
Mihçi E; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya.
Çetin GO; Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye.
Nur B; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya.

Turk J Pediatr ; 65(1): 81-95, 2023.

Article em En | MEDLINE | ID: mdl-36866988

Assuntos

Síndrome de Langer-Giedion; Proteínas Repressoras; Adolescente; Adulto; Criança; Feminino; Humanos; Masculino; Pessoa de Meia-Idade; Adulto Jovem; Síndrome de Langer-Giedion/diagnóstico; Síndrome de Langer-Giedion/genética; Proteínas Repressoras/genética; Síndrome

Palavras-chave

TRPS1 gene; TRPS2; Tricho-rhino-phalangeal syndrome; multiple exostoses; novel mutation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Síndrome de Langer-Giedion Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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