Genetics in Medicine Open (Jan 2024)
P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
- Kevin Booth,
- Sharayu Jangam,
- Martin Man Chun Chui,
- Kayla Treat,
- Lorenzo Graziani,
- Alessia Soldano,
- Kerry White,
- Celanie Christensen,
- Ty Lynnes,
- Shinya Yamamoto,
- Oguz Kanca,
- Mandy Tsang,
- Sally Lynch,
- Sureni Mullegama,
- Julia Baptista,
- Daniela Iancu,
- Shelag Joss,
- Christopher CY Mak,
- Anna Kwong,
- Hugo Bellen,
- Erin Conboy,
- Remo Sanges,
- Michael F. Wangler,
- Brian Hon-Yin Chung,
- Francesco Vetrini
Affiliations
- Kevin Booth
- Indiana University School of Medicine
- Sharayu Jangam
- Baylor College of Medicine
- Martin Man Chun Chui
- The University of Hong Kong, HK
- Kayla Treat
- Indiana University School of Medicine, Indianapolis, IN
- Lorenzo Graziani
- Scuola Internazionale Superiore di Studi Avanzati, Trieste, Italy
- Alessia Soldano
- Scuola Internazionale Superiore di Studi Avanzati, Trieste, Italy
- Kerry White
- Indiana University School of Medicine, Indianapolis, IN
- Celanie Christensen
- Riley Developmental Pediatrics, Indianapolis, IN
- Ty Lynnes
- Indiana University School of Medicine, Indianapolis, IN
- Shinya Yamamoto
- Department of Molecular and Human Genetics, Baylor College of Medicine; Houston, TX
- Oguz Kanca
- Department of Molecular and Human Genetics, Baylor College of Medicine; Houston, TX
- Mandy Tsang
- The University of Hong Kong, HK
- Sally Lynch
- Children’s Health Ireland, Crumlin, Dublin, Republic of Ireland
- Sureni Mullegama
- GeneDx, Gaithersburg, MD
- Julia Baptista
- University of Plymouth, UK
- Daniela Iancu
- University College London, UK
- Shelag Joss
- Queen Elizabeth University Hospital, Glasgow, UK
- Christopher CY Mak
- The University of Hong Kong, HK
- Anna Kwong
- The University of Hong Kong, HK
- Hugo Bellen
- Baylor College of Medicine
- Erin Conboy
- Indiana University School of Medicine
- Remo Sanges
- Scuola Internazionale Superiore di Studi Avanzati, Trieste, Italy
- Michael F. Wangler
- Baylor College of Medicine
- Brian Hon-Yin Chung
- The University of Hong Kong, HK
- Francesco Vetrini
- Indiana University School of Medicine, Indianapolis, IN
- Journal volume & issue
-
Vol. 2
p. 101494
