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Female Genitourinary Disorders

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PDF (johansonblizzard-syndrome-a-report-of-genderdiscordant-twins-with-a-novel-ubr1-mutation.pdf)

496 KBEN 6 pages
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder caused by loss-of-function mutations in the UBR1 gene, characterized by exocrine...
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johanson blizzard syndrome autosomal recessive disorder caused function mutations characterized exocrine

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