De Novo Missense Variant in Bovine WDR33 Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus

ABSTRACT Background Cleft palate (CP) is a congenital defect characterized by an opening in the palate. Two crossbred paternal half‐sibs with a complex syndrome including CP were identified. Hypothesis/Objectives Characterize disease phenotype and evaluate the genetic cause of the observed syndrome....

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Principais autores:	Marilena Bolcato, Giovanni Romito, Irene M. Häfliger, Arcangelo Gentile, Cord Drögemüller, Joana G. P. Jacinto
Formato:	Artigo
Idioma:	Inglês
Publicado:	Oxford University Press 2025-07-01
Series:	Journal of Veterinary Internal Medicine
Assuntos:	cattle CNS disorders congenital heart defects germinal mosaicism palatoschisis pentalogy of Fallot
Acceso en liña:	https://doi.org/10.1111/jvim.70144
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