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rasa1-related arteriovenous malformation is driven by aberrant venous signalling.
Development. 2023 Sep 15;150(18):dev201820. doi: 10.1242/dev.201820. Epub 2023 Sep 14.
Development. 2023.
PMID: 37708300
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology.
Vanden Broek K, Ryu JR, Perrier R, Tyndall AV, Childs SJ, Au PYB.
Vanden Broek K, et al.
Clin Genet. 2024 Apr;105(4):386-396. doi: 10.1111/cge.14467. Epub 2023 Dec 27.
Clin Genet. 2024.
PMID: 38151336
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