Type 1 collagenopathy presenting with a Russell-Silver phenotype-Reference-Cited by-同舟云学术

Type 1 collagenopathy presenting with a Russell-Silver phenotype

Published:2011-05-12 Issue:6 Volume:155 Page:1414-1418
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Parker Michael J.,Deshpande Charulata,Rankin Julia,Wilson Louise C.,Balasubramanian Meena,Hall Christine M.,Wagner Bart E.,Pollitt Rebecca,Dalton Ann,Bishop Nicholas J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33998/fullpdf

Reference18 articles.

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3. Clinically distinct epigenetic subgroups in Silver-Russell syndrome: The degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies;Bruce;J Clin Endocrinol Metab,2009

4. Osteogenesis imperfecta: Translation of mutation to phenotype;Byers;J Med Genet,1991

5. High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta;Cabral;Am J Hum Genet,2004

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