Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.

Lertwilaiwittaya, Pongtawat; Suktitipat, Bhoom; Khongthon, Phongphak; Pongsapich, Warut; Limwongse, Chanin; Pithukpakorn, Manop

Lertwilaiwittaya, Pongtawat; Suktitipat, Bhoom; Khongthon, Phongphak; Pongsapich, Warut; Limwongse, Chanin; Pithukpakorn, Manop.

Afiliación

Lertwilaiwittaya P; Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Suktitipat B; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Khongthon P; Integrative Computational BioScience Center, Mahidol University, Bangkok, Thailand.
Pongsapich W; Research Division, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Limwongse C; Department of Otorhinolaryngology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Pithukpakorn M; Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Mol Genet Genomic Med ; 9(7): e1727, 2021 07.

Article en En | MEDLINE | ID: mdl-34056870

Asunto(s)

Osteopetrosis/genética; Ligando RANK/genética; Adolescente; Adulto; Femenino; Homocigoto; Humanos; Masculino; Mutación; Osteopetrosis/patología; Linaje; Fenotipo; Secuenciación del Exoma

Palabras clave

TNFSF11; bone; genome; osteopetrosis; skeletal dysplasia

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteopetrosis / Ligando RANK Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article País de afiliación: Tailandia

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