Literature DB >> 24259484

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.

Justin Overhoff1, Marina M Rabideau, Lynne M Bird, Daniela N Schweitzer, Karla Haynes, Roger A Schultz, Lisa G Shaffer, Jill A Rosenfeld, Jay W Ellison.   

Abstract

Mesh：

Year:  2013        PMID： 24259484     DOI： 10.1002/ajmg.a.36163

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  2 in total

1.  Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay.

Authors:  Bahadir Turan; Mehmet Akif Akinci; Ibrahim Selcuk Esin; Onur Burak Dursun
Journal:  Eurasian J Med       Date:  2020-06-02

2.  A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

Authors:  Fabrizia Restaldi; Viola Alesi; Angela Aquilani; Silvia Genovese; Serena Russo; Valentina Coletti; Daniele Pompili; Roberto Falasca; Bruno Dallapiccola; Rossella Capolino; Matteo Luciani; Antonio Novelli
Journal:  Mol Cytogenet       Date:  2019-06-14       Impact factor: 2.009
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.