Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

The genetic causes of multiple congenital anomalies are incompletely understood. Here we report novel heterozygous predicted loss-of-function and predicted damaging missense variants in the WBP11 gene, in seven unrelated families with a variety of overlapping congenital malformations including cardi...

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Bibliographic Details
Main Authors: Martin, E, Enriquez, A, Sparrow, D, Humphreys, D, McInerney-Leo, A, Leo, P, Duncan, E, Iyer, K, Greasby, J, Ip, E, Giannoulatou, E, Sheng, D, Wohler, E, Dimartino, C, Amiel, J, Capri, Y, Lehall, D, Mory, A, Wilnai, Y, Lebenthal, Y, Gharavi, A, Krzemień, G, Miklaszewska, M, Steiner, R, Raggio, C, Blank, R, Feldman, H, Rasouly, H, Sobreira, N, Jobling, R, Gordon, C, Giampietro, P, Dunwoodie, S, Chapman, G
Format: Journal article
Language:English
Published: Oxford University Press 2020

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