Article

Exploring Familial Hypospadias: Genetic Insights from Copy Number Variants in a Quad Family

2024-09-08

Abstract excerpt

<title>Abstract</title> <p>The genetic aetiology of hypospadias is likely to be oligogenic with possible interactions between multiple genetic variants and contributory environmental factors. A pathogenic copy number variant (CNV) is usually harboured by 3–14% of patients with rare developmental disorders. With this background, a landscape of CNVs in a family with multiple affected and unaffected progeny is prese...

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Literature Corpus work: 04fe4784-7006-5e08-b5e5-86adbdc21d4c
DOI: 10.21203/rs.3.rs-4843906/v1

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