Cleidocranial dysplasia: Molecular genetic analysis and phenotypic-based description of a Middle European patient group-Reference-Cited by-同舟云学术

Cleidocranial dysplasia: Molecular genetic analysis and phenotypic-based description of a Middle European patient group

Published:2005 Issue:2 Volume:139A Page:78-85
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Baumert Uwe,Golan Ilan,Redlich Meir,Aknin Jean-Jacques,Muessig Dieter

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

2. Recommendations for a nomenclature system for human gene mutations

3. , . 2001. The nature and mechanisms of human gene mutation. In: , , , , , , editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp 343-377.

4. The RUNX1 Runt Domain at 1.25Å Resolution: A Structural Switch and Specifically Bound Chloride Ions Modulate DNA Binding

5. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia

Cited by 41 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia;Journal of Medical Genetics;2022-10-14

2. Demographic, clinical, and radiological characteristics of cleidocranial dysplasia: A systematic review of cases reported in south America;Annals of Medicine & Surgery;2022-05

3. Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations;Journal of Applied Oral Science;2022

4. Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia;Medicine;2021-11-12

5. Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation;Global Medical Genetics;2021-10-22