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The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Sajan, Samin A; Brown, Carolyn M; Davis-Keppen, Laura; Burns, Kaitlyn; Royer, Erin; Coleman, Jessica A Cooley; Hilton, Benjamin A; DuPont, Barbara R; Perry, Denise L; Taft, Ryan J; Kesari, Akanchha.
Affiliation
  • Sajan SA; lllumina Clinical Services Laboratory, Illumina Inc., San Diego, California, USA.
  • Brown CM; lllumina Clinical Services Laboratory, Illumina Inc., San Diego, California, USA.
  • Davis-Keppen L; USD Sanford School of Medicine, Sanford Children's Hospital, Sioux Falls, South Dakota, USA.
  • Burns K; USD Sanford School of Medicine, Sanford Children's Hospital, Sioux Falls, South Dakota, USA.
  • Royer E; USD Sanford School of Medicine, Sanford Children's Hospital, Sioux Falls, South Dakota, USA.
  • Coleman JAC; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Hilton BA; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • DuPont BR; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Perry DL; lllumina Clinical Services Laboratory, Illumina Inc., San Diego, California, USA.
  • Taft RJ; lllumina Clinical Services Laboratory, Illumina Inc., San Diego, California, USA.
  • Kesari A; lllumina Clinical Services Laboratory, Illumina Inc., San Diego, California, USA.
Am J Med Genet A ; 191(12): 2831-2836, 2023 12.
Article in En | MEDLINE | ID: mdl-37551848
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Disorders of Sex Development / Regulatory Sequences, Nucleic Acid Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Disorders of Sex Development / Regulatory Sequences, Nucleic Acid Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication: