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

• Main Authors: Adel Abuzenadah (Author), Nofe Alganmi (Author), Raghad AlQurashi (Author), Esraa Hawsa (Author), Abdullah AlOtibi (Author), Abdulrahman Hummadi (Author), Ahmed Ali Nahari (Author), Somaya AlZelaye (Author), Nasser R. Aljuhani (Author), Manal Al-Attas (Author), Heba Abusamra (Author), Shereen Turkistany (Author), Sajjad Karim (Author), Zeenat Mirza (Author), Mohammed Al-Qahtani (Author), Adeel Chaudhary (Author), Mariam M. Al Eissa (Author)
• Format: Book
• Published: Springer, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...