Literature DB >> 31147255

[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene].

María José Sánchez-Soler1, Ana Teresa Serrano-Antón2, Vanesa López-González2, María Juliana Ballesta Martínez2, Encarna Guillén-Navarro2.   

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Year:  2019        PMID： 31147255     DOI： 10.1016/j.anpedi.2019.03.010

Source DB:  PubMed          Journal:  An Pediatr (Engl Ed)        ISSN： 2341-2879


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  2 in total

1.  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

2.  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
  2 in total

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