Article

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

2024-01-22

Abstract excerpt

<title>Abstract</title> <p><bold>BACKGROUND</bold> Boucher Neuhäuser Syndrome (BNS) is a rare disease with autosomal recessive inheritance defined by the classical triad; early-onset ataxia, hypogonadism and chorioretinal dystrophy. <bold>CASE PRESENTATION</bold> We present two siblings diagnosed with BNS at midlife, identified with homozygous state of a novel PNPLA6 missense mutation. One healthy sibling and the...

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Literature Corpus work: 68ff3694-027d-5709-a299-d03747b43e44
DOI: 10.21203/rs.3.rs-3873584/v1

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