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Article

Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia.

Journal of epidemiology and global health - 1 Mar 2024

Abuzenadah Adel, Alganmi Nofe, AlQurashi Raghad, Hawsa Esraa, AlOtibi Abdullah, Hummadi Abdulrahman, Nahari Ahmed Ali, AlZelaye Somaya, Aljuhani Nasser R, Al-Attas Manal, Abusamra Heba, Turkistany Shereen, Karim Sajjad, Mirza Zeenat, Al-Qahtani Mohammed, Chaudhary Adeel, Al Eissa Mariam M

Abstract excerpt

BACKGROUND: Lipodystrophy is a relatively rare, complex disease characterised by a deficiency of adipose tissue and can present as either generalised lipodystrophy (GLD) or partial lipodystrophy (PLD). The prevalence of this disease varies by region. This study aimed to identify the genetic variations associated with lipodystrophy in the southern part of Saudi Arabia. METHODOLOGY: We conducted a retrospective...

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Identifiers

PMID: 38231342
DOI: 10.1007/s44197-023-00182-5
PMCID: PMC11043304

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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