Literature DB >> 21490502

Myhre syndrome with ataxia and cerebellar atrophy.

Ruxandra Bachmann-Gagescu1, Fukie Marie Hisama, Amy Lawson Yuen.   

Abstract

Entities:  

Mesh：

Year:  2011        PMID： 21490502     DOI： 10.1097/MCD.0b013e3283468043

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


× No keyword cloud information.
  2 in total

1.  A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

Authors:  Viviana Caputo; Luciano Cianetti; Marcello Niceta; Claudio Carta; Andrea Ciolfi; Gianfranco Bocchinfuso; Eugenio Carrani; Maria Lisa Dentici; Elisa Biamino; Elga Belligni; Livia Garavelli; Loredana Boccone; Daniela Melis; Generoso Andria; Bruce D Gelb; Lorenzo Stella; Margherita Silengo; Bruno Dallapiccola; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2012-01-13       Impact factor: 11.025

2.  Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

Authors:  Harvy M Velasco; Ehsan Ullah; Angela M Martin; Robert B Hufnagel; Carlos E Prada
Journal:  Am J Med Genet A       Date:  2020-08-11       Impact factor: 2.578
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.