Article

A novel double mutation of SASH1 associated with Generalized Lentiginosis and unilateral renal dysplasia: pedigree survey and literature review

2024-05-23

Abstract excerpt

<title>Abstract</title> <p>A 19-year-old female patient, diagnosed with generalized lentiginosis and the right renal dysplasia, had all other systems found to be normal. Whole exome sequencing identified double heterozygous missense mutations, c.1029C > T and c.1566C > A, in the SASH1 gene. Her parents each carry a single-site mutation, c.1029C > T, and do not exhibit the similar lentiginous phenotype. According...

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Literature Corpus work: 4a48c2aa-c58b-5f40-bfd4-1734048855cf
DOI: 10.21203/rs.3.rs-4393712/v1

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