ArticleDiagnostics (Basel, Switzerland)2021
When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.
Article in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Clinical and Molecular Spectrum of MYH9-Thrombocytopenia: Insights from a Single Centric Pediatric Cohort.Children (Basel, Switzerland) · 2025Article
- Identification ofDiagnostics (Basel, Switzerland) · 2022Article
- Genetic Testing for Rare Diseases.Diagnostics (Basel, Switzerland) · 2022Article
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Authors and funding
12 authors at 2 institutions in 1 country.
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Abstract
We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child's mother (and some of her relatives) presented with moderate thrombocytopenia and adulthood-onset HL. The child's father (and some of his relatives) presented with adult-onset HL. An HL panel analysis, completed by whole exome sequencing, was performed in this complex family. We identified three pathogenic variants in three different genes:
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