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

Abstract 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...

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Principais autores:	Adel Abuzenadah, Nofe Alganmi, Raghad AlQurashi, Esraa Hawsa, Abdullah AlOtibi, Abdulrahman Hummadi, Ahmed Ali Nahari, Somaya AlZelaye, Nasser R. Aljuhani, Manal Al-Attas, Heba Abusamra, Shereen Turkistany, Sajjad Karim, Zeenat Mirza, Mohammed Al-Qahtani, Adeel Chaudhary, Mariam M. Al Eissa
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Springer 2024-01-01
סדרה:	Journal of Epidemiology and Global Health
נושאים:	Lipodystrophy Common variants Rare diseases Saudi Arabia Prevention
גישה מקוונת:	https://doi.org/10.1007/s44197-023-00182-5
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