Literature DB >> 7211367

Ring chromosome 14 in a mentally retarded girl.

L Iselius, M Ritzén, T H Bui, K Olsson, O Eklöf.   

Abstract

A case of ring chromosome 14 in a 12-year-old girl, showing mental retardation, epilepsy and minor somatic abnormalities, is described and compared with five previously reported cases with the same chromosome aberration.

Entities:  

Mesh：

Year:  1980        PMID： 7211367     DOI： 10.1111/j.1651-2227.1980.tb07157.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


  2 in total

1.  Retinal/macular pigmentation in conjunction with ring 14 chromosome.

Authors:  P J Howard; D Clark; J Dearlove
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

Review 2.  Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Authors:  Berardo Rinaldi; Alessandro Vaisfeld; Sergio Amarri; Chiara Baldo; Giuseppe Gobbi; Pamela Magini; Erto Melli; Giovanni Neri; Francesca Novara; Tommaso Pippucci; Romana Rizzi; Annarosa Soresina; Laura Zampini; Orsetta Zuffardi; Marco Crimi
Journal:  Orphanet J Rare Dis       Date:  2017-04-11       Impact factor: 4.123
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.