Genetics in Medicine Open (Jan 2023)
P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III
- Muqsit Buchh,
- Patrick Gillespie,
- Kayla Treat,
- Marco Abreu,
- Tae-Hwi Schwantes-An,
- Benjamin Helm,
- Fang Fang,
- Xaoling Xuei,
- Lili Mantcheva,
- Kristen Suhrie,
- Brett Graham,
- Erin Conboy,
- Francesco Vetrini
Affiliations
- Muqsit Buchh
- Indiana University School of Medicine
- Patrick Gillespie
- Indiana University School of Medicine
- Kayla Treat
- Indiana University School of Medicine
- Marco Abreu
- Indiana University School of Medicine
- Tae-Hwi Schwantes-An
- Indiana University School of Medicine
- Benjamin Helm
- Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine
- Fang Fang
- Indiana University School of Medicine
- Xaoling Xuei
- Indiana University School of Medicine
- Lili Mantcheva
- Indiana University School of Medicine
- Kristen Suhrie
- Indiana University School of Medicine
- Brett Graham
- Indiana University School of Medicine
- Erin Conboy
- Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine
- Francesco Vetrini
- Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine
- Journal volume & issue
-
Vol. 1,
no. 1
p. 100480
