Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2-Reference-Cited by-同舟云学术

Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

Published:2013-02 Issue:2 Volume:92 Page:252-258
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Moffatt Pierre,Ben Amor Mouna,Glorieux Francis H.,Roschger Paul,Klaushofer Klaus,Schwartzentruber Jeremy A.,Paterson Andrew D.,Hu Pingzhao,Marshall Christian,Fahiminiya Somayyeh,Majewski Jacek,Beaulieu Chandree L.,Boycott Kym M.,Rauch Frank

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly;Halal;Am. J. Med. Genet.,1982

2. Merlin—rapid analysis of dense genetic maps using sparse gene flow trees;Abecasis;Nat. Genet.,2002

3. Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma;Schwartzentruber;Nature,2012

4. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development;Otto;Cell,1997

5. Building strong bones: molecular regulation of the osteoblast lineage;Long;Nat. Rev. Mol. Cell Biol.,2012

Cited by 29 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. Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives;Bone Reports;2024-03

3. Functional consequences of C-terminal mutations in RUNX2;Scientific Reports;2023-07-27

4. Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion;The Journal of Pediatrics;2023-01

5. Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant;Bone;2022-07