Literature DB >> 18445000

Knobloch syndrome: novel intra-oral findings.

Anne C O'Connell1, Mary Toner, Sinead Murphy.   

Abstract

Entities:  

Mesh：

Year:  2008        PMID： 18445000     DOI： 10.1111/j.1365-263X.2008.00923.x

Source DB:  PubMed          Journal:  Int J Paediatr Dent        ISSN： 0960-7439            Impact factor:   3.455


× No keyword cloud information.
  2 in total

1.  Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.

Authors:  Lu-Si Zhang; Hai-Bo Li; Jun Zeng; Yan Yang; Chun Ding
Journal:  Int J Ophthalmol       Date:  2018-06-18       Impact factor: 1.779

2.  Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Authors:  Alireza Haghighi; Amit Tiwari; Niloofar Piri; Gudrun Nürnberg; Nasrollah Saleh-Gohari; Amirreza Haghighi; John Neidhardt; Peter Nürnberg; Wolfgang Berger
Journal:  PLoS One       Date:  2014-11-13       Impact factor: 3.240
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.