Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia

Cleidocranial dysplasia (CCD) is mainly attributable to a variant of runt-related transcription factor 2 (RUNX2) on chromosome 6p21. CCD is an autosomal dominant skeletal disorder characterized by open/delayed closure of fontanels, clavicular hypoplasia, retention of deciduous teeth, and supernumera...

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Detalles Bibliográficos
Autores principales: Yang, Liyuan, Lu, Genqi, Shen, Wenjing, Chen, Wenjing, Lu, Haiyan, Zhang, Guozhong, Yuan, Shuo, Zheng, Shushen, Ren, Jiabao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
5900
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8589230/
https://www.ncbi.nlm.nih.gov/pubmed/34766588
http://dx.doi.org/10.1097/MD.0000000000027746

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