Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies

Summary: The primary cilium is a small organelle that plays key roles in cellular signaling. Defects in primary cilia formation, morphology, and function cause a heterogeneous group of developmental syndromes termed ciliopathies. The inturned planar cell polarity protein (INTU) gene acts in the CPLA...

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Autori principali:	Rebekah Rushforth, Kurt Reynolds, Steven I. Estes, Daniel K. Nolan, Mari Mori, Daniel C. Koboldt, Jesse M. Hunter, Rolf W. Stottmann
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2026-01-01
Serie:	HGG Advances
Soggetti:	INTU OFDS polydactyly ciliogenesis SHH
Accesso online:	http://www.sciencedirect.com/science/article/pii/S2666247725001216
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