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 GleesonPublished 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.).
Keyphrases
- cell proliferation
- stem cells
- endothelial cells
- mouse model
- healthcare
- public health
- mental health
- intellectual disability
- induced pluripotent stem cells
- genome wide
- quality improvement
- health information
- transcription factor
- pluripotent stem cells
- gestational age
- case report
- emergency department
- copy number
- dna methylation
- gene expression
- adverse drug
- pregnant women
- autism spectrum disorder
- pregnancy outcomes