3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of Proportionate Short Stature

Autor: Al-Dosari, Mohammed S., Al-Shammari, Muneera, Shaheen, Ranad, Faqeih, Eissa, AlGhofely, Mohammed A., Boukai, Ahmad, Alkuraya, Fowzan S.

Publikováno v: In The Journal of Pediatrics July 2012 161(1):139-145

Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis.

Autor: Alotibi RS; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia., Al Eissa MM; Department of Molecular Genetics, Public Health Authority, Public Health Laboratory, Riyadh, Saudi Arabia.; Department of Medicine, Al Faisal University, Riyadh, Saudi Arabia., Aloraini T; Department of Laboratory Medicine, Division of Translational Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Department of Genetics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Nasser KK; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Centre for Artificial Intelligence in Precision Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Al Shammari MJ; Department of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alqahtani AS; Department of Medical Genetics, King Saud Medical City, Riyadh, Saudi Arabia.

Publikováno v: Saudi journal of medicine & medical sciences [Saudi J Med Med Sci] 2024 Oct-Dec; Vol. 12 (4), pp. 292-298. Date of Electronic Publication: 2024 Oct 12.