Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with Congenital Hypothyroidism: Ruling Out Recessive Inheritance or a Kinship/Laboratory Sequencing Error.

Journal Article Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with Congenital Hypothyroidism: Ruling Out Recessive Inheritance or a Kinship/Laboratory Sequencing Error Get access Ruchi Jain, Ruchi Jain Al Jalila Genomics Center of Excellence, Al Jalila Children’s Specialty Hospital, Dubai, United Arab Emirates Search for other works by this author on: Oxford Academic Google Scholar Fatima Rabea, Fatima Rabea College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates Search for other works by this author on: Oxford Academic Google Scholar Roudha Alfalasi, Roudha Alfalasi Al Jalila Genomics Center of Excellence, Al Jalila Children’s Specialty Hospital, Dubai, United Arab Emirates Search for other works by this author on: Oxford Academic Google Scholar Mohamed Wasfy Elabiary, Mohamed Wasfy Elabiary College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab EmiratesDepartment of Endocrinology, Al Jalila Children’s Specialty Hospital, Dubai, United Arab Emirates Search for other works by this author on: Oxford Academic Google Scholar Ahmad Abou Tayoun Ahmad Abou Tayoun Al Jalila Genomics Center of Excellence, Al Jalila Children’s Specialty Hospital, Dubai, United Arab EmiratesCenter for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates Address correspondence to this author at: Al Jalila Children’s Specialty Hospital, Al Jaddaf, Dubai, United Arab Emirates, P.O. Box 7662. E-mail Ahmad.Tayoun@ajch.ae. https://orcid.org/0000-0002-9134-1673 Search for other works by this author on: Oxford Academic Google Scholar The Journal of Applied Laboratory Medicine, jfad039, https://doi.org/10.1093/jalm/jfad039 Published: 21 July 2023 Article history Received: 03 February 2023 Accepted: 24 April 2023 Published: 21 July 2023