Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard-Reference-Cited by-同舟云学术

Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard

Published:2022-11-28 Issue:2 Volume:31 Page:248-251
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Jackson Iseult,Mattiangeli Valeria,Cassidy Lara M.,Murphy Eileen,Bradley Daniel G.^ORCID

Funder

Wellcome Trust

Science Foundation Ireland

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01219-2.pdf

Reference20 articles.

1. Lewis M. Skeletal dysplasias and related conditions. In: Buikstra JE, editor. Ortner’s identification of pathological conditions in human skeletal remains. London: Academic Press; 2019. p. 615–37.

2. McKenzie CJ, Murphy EM. Life and death in medieval Gaelic Ireland: the skeletons from Ballyhanna, Co. Donegal. Dublin: Four Courts Press; 2018. 448 p.

3. Pacifici M. Hereditary multiple exostoses: new insights into pathogenesis, clinical complications and potential treatments. Curr Osteoporos Rep. 2017;15:142–52.

4. Wuyts W, Schmale GA, Chansky HA, Raskind WH. Hereditary multiple osteochondromas. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2020. https://www.ncbi.nlm.nih.gov/pubmed/20301413

5. Murphy EM, McKenzie CJ. Multiple osteochondromas in the archaeological record: a global review. J Archaeol Sci. 2010;37:2255–64.

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