Familial cleidocranial dysplasia misdiagnosed as rickets over three generations
Author:
Affiliation:
1. Pediatrics Unit; S. Chiara General Hospital; Trento Italy
2. Department of Evolutive Age, Medical Genetics Unit; IRCCS-Ospedale Casa Sollievo della Sofferenza; San Giovanni Rotondo Italy
3. Radiology Unit; S. Maria del Carmine; Rovereto Italy
Publisher
Wiley
Subject
Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12692/fullpdf
Reference10 articles.
1. Cleidocranial dysplasia: Clinical and molecular genetics;Mundlos;J. Med. Genet.,1999
2. Clinical spectrum of cleidocranial dysplasia: A case report;Garg;Cases J.,2008
3. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia;Lee;Nat. Genet.,1997
4. Regulation of bone development and maintenance by Runx2;Komori;Front. Biosci.,2008
5. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia;Ott;Hum. Mutat.,2010
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1. A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia;Genes;2022-06-23
2. Newborn with cleidocranial dysplasia;Skeletal Radiology;2022-06-21
3. An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia without RUNX2 Mutation;Frontiers in Genetics;2021-10-19
4. Effect of periostin silencing on Runx2, RANKL and OPG expression in osteoblasts;Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie;2020-11-03
5. Molecular Genetics of Cleidocranial Dysplasia;Fetal and Pediatric Pathology;2020-01-26
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