Literature DB >> 9556300

Spondylometaphyseal dysplasia-Sedaghatian type.

N Elçioglu1, C M Hall.   

Abstract

We present the radiological findings in two unrelated cases with spondylometaphyseal dysplasia type Sedaghatian. We review the literature and identify additional anomalies including disproportionately long fibulae, dysharmonious maturation and turricephaly.

Entities:  

Mesh：

Year:  1998        PMID： 9556300

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

1.  The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.

Authors:  Gen Nishimura; Eiji Nakashima; Yuichiro Hirose; Trevor Cole; Phillip Cox; Daniel H Cohn; David L Rimoin; Ralph S Lachman; Yoshinari Miyamoto; Bronwyn Kerr; Sheila Unger; Hirofumi Ohashi; Andrea Superti-Furga; Shiro Ikegawa
Journal:  J Med Genet       Date:  2007-04       Impact factor: 6.318

2.  Characterization of a patient-derived variant of GPX4 for precision therapy.

Authors:  Hengrui Liu; Farhad Forouhar; Tobias Seibt; Russell Saneto; Kristen Wigby; Jennifer Friedman; Xin Xia; Mikhail S Shchepinov; Sanath Kumar Ramesh; Marcus Conrad; Brent R Stockwell
Journal:  Nat Chem Biol       Date:  2021-12-20       Impact factor: 16.174
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.