A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review

BACKGROUND: Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies ha...

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Detalles Bibliográficos
Autores principales: Hsueh, Sung-Ju, Lee, Ni-Chung, Yang, Shu-Hua, Lin, Han-I, Lin, Chin-Hsien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216594/
https://www.ncbi.nlm.nih.gov/pubmed/28056872
http://dx.doi.org/10.1186/s12883-016-0781-2

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