A Novel Mutation in the <i>TRIP11</i> Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia

Yeter, Burcu; Dilruba Aslanger, Ayca; Yesil, Gözde; Elçioglu, Nursel H.

A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia

Yeter, Burcu; Dilruba Aslanger, Ayca; Yesil, Gözde; Elçioglu, Nursel H..

Afiliación

Yeter B; Marmara University Faculty of Medicine, Department of Pediatric Genetics, Istanbul, Turkey
Dilruba Aslanger A; Istanbul University Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey
Yesil G; Istanbul University Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey
Elçioglu NH; Marmara University Faculty of Medicine, Department of Pediatric Genetics, Istanbul, Turkey

J Clin Res Pediatr Endocrinol ; 14(4): 475-480, 2022 12 01.

Article en En | MEDLINE | ID: mdl-34111908

Palabras clave

Odontochondrodysplasia; TRIP11; dentinogenesis imperfecta; rare disease; skeletal dysplasia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Clin Res Pediatr Endocrinol Año: 2022 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía

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