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

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

Abstract 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 u...

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Bibliographic Details
Main Authors: Pongtawat Lertwilaiwittaya, Bhoom Suktitipat, Phongphak Khongthon, Warut Pongsapich, Chanin Limwongse, Manop Pithukpakorn
Format: Article
Language:English
Published: Wiley 2021-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
bone
genome
osteopetrosis
skeletal dysplasia
TNFSF11
Online Access:https://doi.org/10.1002/mgg3.1727

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