eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia

K Treat; S Jangam; S Yamamoto; K White; O Kanca; C Christensen; S Lynch; J Baptista; MHY Tsang; K Jay; BHY Chung; LYP Yuen; MMC Chui; H Bellen; M Wangler; E Conboy; F Vetrini

doi:10.1016/j.gim.2022.01.445

eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia

K Treat
, S Jangam
, S Yamamoto
, K White
, O Kanca
, C Christensen
, S Lynch
, J Baptista
, MHY Tsang
, K Jay
, BHY Chung
, LYP Yuen
, MMC Chui
, H Bellen
, M Wangler
, E Conboy
, F Vetrini

Peninsula Medical School

Research output: Contribution to conference › Conference paper (not formally published) › peer-review

Original language	English
DOIs	https://doi.org/10.1016/j.gim.2022.01.445
Publication status	Published - Mar 2022

Access to Document

10.1016/j.gim.2022.01.445

Cite this

Treat, K., Jangam, S., Yamamoto, S., White, K., Kanca, O., Christensen, C., Lynch, S., Baptista, J., Tsang, MHY., Jay, K., Chung, BHY., Yuen, LYP., Chui, MMC., Bellen, H., Wangler, M., Conboy, E., & Vetrini, F. (2022). eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia. https://doi.org/10.1016/j.gim.2022.01.445

@conference{510f84ad949548089f858d0420682508,

title = "eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia",

author = "K Treat and S Jangam and S Yamamoto and K White and O Kanca and C Christensen and S Lynch and J Baptista and MHY Tsang and K Jay and BHY Chung and LYP Yuen and MMC Chui and H Bellen and M Wangler and E Conboy and F Vetrini",

year = "2022",

month = mar,

doi = "10.1016/j.gim.2022.01.445",

language = "English",

}

Treat, K, Jangam, S, Yamamoto, S, White, K, Kanca, O, Christensen, C, Lynch, S, Baptista, J, Tsang, MHY, Jay, K, Chung, BHY, Yuen, LYP, Chui, MMC, Bellen, H, Wangler, M, Conboy, E & Vetrini, F 2022, 'eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia'. https://doi.org/10.1016/j.gim.2022.01.445

TY - CONF

T1 - eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia

AU - Treat, K

AU - Jangam, S

AU - Yamamoto, S

AU - White, K

AU - Kanca, O

AU - Christensen, C

AU - Lynch, S

AU - Baptista, J

AU - Tsang, MHY

AU - Jay, K

AU - Chung, BHY

AU - Yuen, LYP

AU - Chui, MMC

AU - Bellen, H

AU - Wangler, M

AU - Conboy, E

AU - Vetrini, F

PY - 2022/3

Y1 - 2022/3

U2 - 10.1016/j.gim.2022.01.445

DO - 10.1016/j.gim.2022.01.445

M3 - Conference paper (not formally published)

ER -