Literature DB >> 32181568

Phenotypic expansion of OTUD6B-related syndrome.

Fowzan S Alkuraya1,2.   

Abstract

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Year:  2020        PMID： 32181568     DOI： 10.1002/ajmg.a.61548

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


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  4 in total

1.  A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot.

Authors:  Esra Börklü; Umut Altunoğlu; Serpil Eraslan; Hülya Kayserili
Journal:  Mol Syndromol       Date:  2022-01-26

2.  Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.

Authors:  Sultan Cingöz; Didem Soydemir; Tülay Öncü Öner; Ezgi Karaca; Burcu Özden; Semra Hız Kurul; Erhan Bayram; Bradley P Coe; Deborah A Nickerson; Evan E Eichler
Journal:  Eur J Med Genet       Date:  2022-04-14       Impact factor: 2.465

3.  Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.

Authors:  Tim Phetthong; Arthaporn Khongkrapan; Natini Jinawath; Go-Hun Seo; Duangrurdee Wattanasirichaigoon
Journal:  Genes (Basel)       Date:  2021-10-07       Impact factor: 4.096

4.  Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case.

Authors:  Maria Elena Romero-Ibarguengoitia; Consuelo Cantú-Reyna; Dalia Gutierrez-González; Héctor Cruz-Camino; Arnulfo González-Cantú; Miguel Angel Sanz Sánchez
Journal:  J Investig Med High Impact Case Rep       Date:  2020 Jan-Dec
  4 in total

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