PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

Florence Petit; Mauro Longoni; Julie Wells; Richard S. Maser; Eric L. Bogenschutz; Matthew J. Dysart; Hannah T.M. Contreras; Frederic Frénois; Barbara R. Pober; Robin D. Clark; Philip F. Giampietro; Hilger H. Ropers; Hao Hu; Maria Loscertales; Richard Wagner; Xingbin Ai; Harrison Brand; Anne Sophie Jourdain; Marie Ange Delrue; Brigitte Gilbert-Dussardier; Louise Devisme; Boris Keren; David J. McCulley; Lu Qiao; Rebecca Hernan; Julia Wynn; Tiana M. Scott; Daniel G. Calame; Zeynep Coban-Akdemir; Patricia Hernandez; Andres Hernandez-Garcia; Hagith Yonath; James R. Lupski; Yufeng Shen; Wendy K. Chung; Daryl A. Scott; Carol J. Bult; Patricia K. Donahoe; Frances A. High

doi:10.1016/j.ajhg.2023.09.002

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

Florence Petit, Mauro Longoni, Julie Wells, Richard S. Maser, Eric L. Bogenschutz, Matthew J. Dysart, Hannah T.M. Contreras, Frederic Frénois, Barbara R. Pober, Robin D. Clark, Philip F. Giampietro, Hilger H. Ropers, Hao Hu, Maria Loscertales, Richard Wagner, Xingbin Ai, Harrison Brand, Anne Sophie Jourdain, Marie Ange Delrue, Brigitte Gilbert-DussardierLouise Devisme, Boris Keren, David J. McCulley, Lu Qiao, Rebecca Hernan, Julia Wynn, Tiana M. Scott, Daniel G. Calame, Zeynep Coban-Akdemir, Patricia Hernandez, Andres Hernandez-Garcia, Hagith Yonath, James R. Lupski, Yufeng Shen, Wendy K. Chung, Daryl A. Scott, Carol J. Bult, Patricia K. Donahoe, Frances A. High

Pediatric - Genetics Division

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	1787-1803
Number of pages	17
Journal	American Journal of Human Genetics
Volume	110
Issue number	10
DOIs	https://doi.org/10.1016/j.ajhg.2023.09.002
State	Published - Oct 5 2023

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

PLS3, plastin
X-linked
abdominal hernia
actin-binding protein
congenital diaphragmatic hernia
fimbrin
omphalocele
umbilical hernia

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Petit, F., Longoni, M., Wells, J., Maser, R. S., Bogenschutz, E. L., Dysart, M. J., Contreras, H. T. M., Frénois, F., Pober, B. R., Clark, R. D., Giampietro, P. F., Ropers, H. H., Hu, H., Loscertales, M., Wagner, R., Ai, X., Brand, H., Jourdain, A. S., Delrue, M. A., ... High, F. A. (2023). PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. American Journal of Human Genetics, 110(10), 1787-1803. https://doi.org/10.1016/j.ajhg.2023.09.002

Petit, F, Longoni, M, Wells, J, Maser, RS, Bogenschutz, EL, Dysart, MJ, Contreras, HTM, Frénois, F, Pober, BR, Clark, RD, Giampietro, PF, Ropers, HH, Hu, H, Loscertales, M, Wagner, R, Ai, X, Brand, H, Jourdain, AS, Delrue, MA, Gilbert-Dussardier, B, Devisme, L, Keren, B, McCulley, DJ, Qiao, L, Hernan, R, Wynn, J, Scott, TM, Calame, DG, Coban-Akdemir, Z, Hernandez, P, Hernandez-Garcia, A, Yonath, H, Lupski, JR, Shen, Y, Chung, WK, Scott, DA, Bult, CJ, Donahoe, PK & High, FA 2023, 'PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects', American Journal of Human Genetics, vol. 110, no. 10, pp. 1787-1803. https://doi.org/10.1016/j.ajhg.2023.09.002

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title = "PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects",

keywords = "PLS3, plastin, X-linked, abdominal hernia, actin-binding protein, congenital diaphragmatic hernia, fimbrin, omphalocele, umbilical hernia",

author = "Florence Petit and Mauro Longoni and Julie Wells and Maser, {Richard S.} and Bogenschutz, {Eric L.} and Dysart, {Matthew J.} and Contreras, {Hannah T.M.} and Frederic Fr{\'e}nois and Pober, {Barbara R.} and Clark, {Robin D.} and Giampietro, {Philip F.} and Ropers, {Hilger H.} and Hao Hu and Maria Loscertales and Richard Wagner and Xingbin Ai and Harrison Brand and Jourdain, {Anne Sophie} and Delrue, {Marie Ange} and Brigitte Gilbert-Dussardier and Louise Devisme and Boris Keren and McCulley, {David J.} and Lu Qiao and Rebecca Hernan and Julia Wynn and Scott, {Tiana M.} and Calame, {Daniel G.} and Zeynep Coban-Akdemir and Patricia Hernandez and Andres Hernandez-Garcia and Hagith Yonath and Lupski, {James R.} and Yufeng Shen and Chung, {Wendy K.} and Scott, {Daryl A.} and Bult, {Carol J.} and Donahoe, {Patricia K.} and High, {Frances A.}",

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doi = "10.1016/j.ajhg.2023.09.002",

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T1 - PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

AU - Petit, Florence

AU - Longoni, Mauro

AU - Wells, Julie

AU - Maser, Richard S.

AU - Bogenschutz, Eric L.

AU - Dysart, Matthew J.

AU - Contreras, Hannah T.M.

AU - Frénois, Frederic

AU - Pober, Barbara R.

AU - Clark, Robin D.

AU - Giampietro, Philip F.

AU - Ropers, Hilger H.

AU - Hu, Hao

AU - Loscertales, Maria

AU - Wagner, Richard

AU - Ai, Xingbin

AU - Brand, Harrison

AU - Jourdain, Anne Sophie

AU - Delrue, Marie Ange

AU - Gilbert-Dussardier, Brigitte

AU - Devisme, Louise

AU - Keren, Boris

AU - McCulley, David J.

AU - Qiao, Lu

AU - Hernan, Rebecca

AU - Wynn, Julia

AU - Scott, Tiana M.

AU - Calame, Daniel G.

AU - Coban-Akdemir, Zeynep

AU - Hernandez, Patricia

AU - Hernandez-Garcia, Andres

AU - Yonath, Hagith

AU - Lupski, James R.

AU - Shen, Yufeng

AU - Chung, Wendy K.

AU - Scott, Daryl A.

AU - Bult, Carol J.

AU - Donahoe, Patricia K.

AU - High, Frances A.

PY - 2023/10/5

Y1 - 2023/10/5

KW - PLS3, plastin

KW - X-linked

KW - abdominal hernia

KW - actin-binding protein

KW - congenital diaphragmatic hernia

KW - fimbrin

KW - omphalocele

KW - umbilical hernia

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DO - 10.1016/j.ajhg.2023.09.002

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SN - 0002-9297

VL - 110

SP - 1787

EP - 1803

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 10

ER -

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

ASJC Scopus Subject Areas

Keywords

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