Literature DB >> 28040705

NOTCH2 genetic mutation and acro-osteolysis-the Hajdu-Cheney syndrome.

G Jerzakowski, T Lasek, A Binkiewicz-Glinska, M Krygier, P Zawadzki.   

Abstract

Entities:  

Year:  2017        PMID： 28040705     DOI： 10.1093/qjmed/hcw211

Source DB:  PubMed          Journal:  QJM        ISSN： 1460-2393


× No keyword cloud information.
  1 in total

1.  Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report.

Authors:  Stéphane Echaubard; Céline Pebrel-Richard; Aurélie Chausset; Jean-Louis Kemeny; Etienne Merlin; Fanny Laffargue
Journal:  Pediatr Rheumatol Online J       Date:  2022-07-30       Impact factor: 3.413
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.