Article

Approaches to solving undiagnosed rare genetic diseases in consanguineous populations

2026-08-07

Abstract excerpt

Rare genetic diseases present with a broad spectrum of clinical manifestations, frequently affecting multiple organ systems or causing isolated, severe physical impairments. These disorders represent a profound public health and socioeconomic burden due to prolonged diagnostic delays, suboptimal clinical management, and the lack of targeted therapeutic options. While early detection remains paramount to establishi...

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Literature Corpus work: 115a4ffa-5afc-5c4b-a03b-10cb469437aa
DOI: 10.25259/jmsr_315_2026

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