A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.

Elmaogullari, Selin; Yildiz, Adelet Elçin; Demir, Selma; Gürkan, Hakan; Uçaktürk, Seyit Ahmet

Elmaogullari, Selin; Yildiz, Adelet Elçin; Demir, Selma; Gürkan, Hakan; Uçaktürk, Seyit Ahmet.

Elmaogullari S; Departments of Pediatric Endocrinology, Ankara Children's Hematology and Oncology Training and Research Hospital, Ankara, Turkey.
Yildiz AE; Departments of Radiology, Ankara Children's Hematology and Oncology Training and Research Hospital, Ankara.
Demir S; Department of Molecular Genetics, Trakya University Faculty of Medicine, Edirne, Turkey.
Gürkan H; Department of Molecular Genetics, Trakya University Faculty of Medicine, Edirne, Turkey.
Uçaktürk SA; Departments of Pediatric Endocrinology, Ankara Children's Hematology and Oncology Training and Research Hospital, Ankara, Turkey.

Turk J Pediatr ; 61(4): 594-598, 2019.

Article en En | MEDLINE | ID: mdl-31990479

Asunto(s)

Proteínas de Unión al ADN/genética; Proteínas de la Membrana/genética; Madres; Mutación; Osteopoiquilosis/genética; Adolescente; Autoantígenos; Análisis Mutacional de ADN; Proteínas de Unión al ADN/metabolismo; Femenino; Humanos; Masculino; Proteínas de la Membrana/metabolismo; Osteopoiquilosis/diagnóstico; Osteopoiquilosis/metabolismo; Radiografía

Palabras clave

LEMD3; osteopoikilosis; pathogenic variation

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteopoiquilosis / Proteínas de Unión al ADN / Proteínas de la Membrana / Madres / Mutación Tipo de estudio: Diagnostic_studies Límite: Adolescent / Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article

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