Literature DB >> 25846266

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.

Saumya S Jamuar1,2, Hatice Duzkale1,3, Neslihan Duzkale4, Chengsheng Zhang1, Frances A High1, Leonard Kaban5, Soma Bhattacharya6, Barbara Crandall7, Sibel Kantarci7, Joan M Stoler8, Angela E Lin9.   

Abstract

Mesh：

Year:  2015        PMID： 25846266     DOI： 10.1002/ajmg.a.36848

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


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  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

Review 2.  A framework for the evaluation of patients with congenital facial weakness.

Authors:  Bryn D Webb; Irini Manoli; Elizabeth C Engle; Ethylin W Jabs
Journal:  Orphanet J Rare Dis       Date:  2021-04-07       Impact factor: 4.123
  2 in total

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