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A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

Guoliang ChaiEmmanuelle Szenker-RaviChanguk ChungZhen LiLu WangMuznah KhatooTrevor MarshallNan JiangXiaoxu YangJennifer McEvoy-VenneriValentina StanleyPaula AnzenbergNhi LangVanessa WaznyJia YuDavid M VirshupRie NygaardFilippo ManciaRijad MerdzanicMaria B P TorallesPaula M L PitangaRatna D PuriRebecca HernanWendy K ChungAida M Bertoli-AvellaNouriya Al-SannaaMaha S ZakiKarl WillertBruno ReversadeJoseph G Gleeson
Published in: The New England journal of medicine (2021)
Genetic variations affecting a central Wnt regulator caused syndromic structural birth defects. Results from mouse models suggest that what we have named Zaki syndrome is a potentially preventable disorder. (Funded by the National Institutes of Health and others.).
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