Article
A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle.
Journal of veterinary internal medicine - 1 Jan 2022
Jacinto Joana G P, Häfliger Irene M, Bernardini Marco, Mandara Maria Teresa, Bianchi Ezio, Bolcato Marilena, Romagnoli Noemi, Gentile Arcangelo, Drögemüller Cord
Abstract excerpt
Hemifacial microsomia (HFM) was diagnosed in a 9-day-old Romagnola calf. The condition was characterized by microtia of the left ear, anotia of the right ear, asymmetry of the face, and deafness. Magnetic resonance imaging revealed agenesis of the right pinna and both tympanic bullae, asymmetry of the temporal bones and temporomandibular joints, and right pontine meningocele. Brainstem auditory evoked responses...
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