Article
MYT1 role in the microtia-craniofacial microsomia spectrum.
Molecular genetics & genomic medicine - 1 Oct 2020
Luquetti Daniela V, Heike Carrie L, Zarante Ignacio, Timms Andrew E, Gustafson Jonas, Pachajoa Harry, Porras-Hurtado Gloria L, Ayala-Ramirez Paola, Duenas-Roque Milagros M, Jimenez Natalia, Ibanez Lina M, Hurtado-Villa Paula
Abstract excerpt
BACKGROUND: Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to lateral oral clefts, epibulbar dermoids, cardiac, vertebral, and renal abnormalities. The etiology of CFM is largely unknown. The MYT1 gene has been reported as a candidate...
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