A journey towards answers: Bonnie Odgers Meets Dr. John Graham. Issue 9 (21st April 2021)

• Record Type: Journal Article
• Authors: Scott, Anna‐Lisa; Odgers, Bonnie
• Other Names: Burkardt Deepika D'Cunha guestEditor.; Sanchez‐Lara Pedro A guestEditor.; Girisha Katta M guestEditor.; Carey John C guestEditor.
• Is Part Of: American journal of medical genetics. Volume 185:Issue 9(2021)
• Page Start: 2627
• Page End: 2629
• Publication Date: 2021-04-21
• Subjects: DailyBonnie -- HIST1H1E Neurodevelopmental Syndrome -- HIST1H1E Syndrome -- Rahman Syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62210
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: The importance of understanding HIST1H1E Syndrome is sharing our family's personal journey to find a diagnosis for our daughter, Bonnie Odgers. This syndrome has also been referred to as Rahman Syndrome and HIST1H1E Neurodevelopmental Syndrome depending upon the origin of research. Characteristics of HIST1H1E are curved fingers, full cheeks, high forehead, speech impairments and mild to severe intellectual disability. This article reveals the Odgers' family journey towards a diagnosis, the key physicians research through whole exome genetic testing and revealing characteristics of HIST1H1E.