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

BACKGROUND: Osteopetrosis is a rare form of skeletal dysplasia characterized by increased bone density that leads to bone marrow failure, compressive neuropathy, and skeletal dysmorphism. Molecular diagnosis is essential as it guides treatment and prognosis. We report Thai siblings with an ultra‐rar...

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Detalles Bibliográficos
Autores principales: Lertwilaiwittaya, Pongtawat, Suktitipat, Bhoom, Khongthon, Phongphak, Pongsapich, Warut, Limwongse, Chanin, Pithukpakorn, Manop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372087/
https://www.ncbi.nlm.nih.gov/pubmed/34056870
http://dx.doi.org/10.1002/mgg3.1727

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372087/
https://www.ncbi.nlm.nih.gov/pubmed/34056870
http://dx.doi.org/10.1002/mgg3.1727

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