Article

Uncovering a new SASH1 mutation associated with Generalized Lentiginosis and unilateral renal dysplasia: pedigree survey and literature review

2024-04-22

Abstract excerpt

A 19-year-old female patient exhibits widespread pigmentation patches and unilateral renal dysplasia, while other systems were unremarkable. The diagnosis was generalized lentiginosis and the right kidney is dysplastic and nonfunctional. Genetic screening unveiled two heterozygous missense alterations in the SASH1 gene: c.1029C > T(p.Thr343=) and c.1566C > A(p.Ser522Arg). Her parents, while carrying the c.1029C >...

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Literature Corpus work: fc17f04f-4132-5b46-bae2-7ad641e43f20
DOI: 10.21203/rs.3.rs-4246628/v1

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