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

  • Published:2021-11-12 Issue:45 Volume:100 Page:e27746
  • ISSN:0025-7974
  • Container-title:Medicine
  • language:en
  • Short-container-title:

Author:

Yang Liyuan,Lu Genqi,Shen Wenjing,Chen Wenjing,Lu Haiyan,Zhang Guozhong,Yuan Shuo,Zheng Shushen,Ren Jiabao

Funder

Science and Technology Project of Hebei Provincial Department of Science and Technology of China

Hebei Provincial Government Funded Clinical Medical Talents Training Program

Medical Technology Tracking Project in Hebei Province

Hebei Medical University Stomatology Hospital Independent Cultivation Program

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference27 articles.

1. Molecular genetics of cleidocranial dysplasia;Motaei;Fetal Pediatr Pathol,2020

2. Delayed eruption of permanent dentition and maxillary contraction in patients with cleidocranial dysplasia: review and report of a family;Impellizzeri;Int J Dent,2018

3. Cleidocranial dysplasia with normal clavicles: a report of a novel genotype and a review of seven previous cases;Singh;Mol Syndromol,2015

4. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia;Quack;Am J Hum Genet,1999

5. Pathogenicity of endocrine dysregulation in autism: the role of the melanin-concentrating hormone system;Swierczynski;Swierczynski,2019

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