Identification of RUNX2 variants associated with cleidocranial dysplasia

BACKGROUND: Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder mainly characterized by hypoplastic or absent clavicles, delayed closure of the fontanelles, multiple dental abnormalities, and short stature. Runt-related transcription factor 2 (RUNX2) gene variants can cause CCD, but...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Hereditas
Asıl Yazarlar: Gao, Xueren, Li, Kunxia, Fan, Yanjie, Sun, Yu, Luo, Xiaomei, Wang, Lili, Liu, Huili, Gong, Zhuwen, Wang, Jianguo, Wang, Yu, Gu, Xuefan, Yu, Yongguo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2019
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6747736/
https://ncbi.nlm.nih.gov/pubmed/31548836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s41065-019-0107-7
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