Expanding the etiology of oculo-auriculo-vertebral spectrum: a novel interstitial microdeletion at 1p36

HIGHLIGHTS

• who: Mu00f3nica Garcu00eda-Castro and collaborators from the Genu00e9tica, UM, Santander, Spain Departamento y Psiquiatru00eda, Universidad Cantabria, Santander, Spain have published the paper: Expanding the Etiology of Oculo-Auriculo-Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36, in the Journal: (JOURNAL)
• what: This analysis showed a heterozygous 437.7 kb deletion at 1p36.13 (Chr1.19085207-19522963; GRCh37, hg19) that included the OMIM genes TAS1R2 (taste receptor type 1, member 2), ALDH4A1 (aldehyde dehydrogenase, family 4, subfamily a, member 1), and UBR4 (ubiquitin protein ligase e3 component n-recognin 4), and a few other genes . . .
  

   

  

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