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...

Description complète

Détails bibliographiques

Auteurs principaux:	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
Format:	Artigo
Langue:	Inglês
Publié:	Springer 2024-01-01
Collection:	Journal of Epidemiology and Global Health
Sujets:	Lipodystrophy Common variants Rare diseases Saudi Arabia Prevention
Accès en ligne:	https://doi.org/10.1007/s44197-023-00182-5
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!