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Tracheal Cartilaginous Sleeve in Antley-Bixler Syndrome With W290C Mutation in FGFR2 |
Jayoung Oh, Seong Keun Kwon |
Journal of The Korean Society of Laryngology, Phoniatrics and Logopedics. 2022;33(1):50-53. Published online 2022 April 27 DOI: http://dx.doi.org/10.22469/jkslp.2022.33.1.50 |
Tracheal Cartilaginous Sleeve in Antley-Bixler Syndrome With W290C Mutation in FGFR2 Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome Antley-Bixler Syndrome (trapezoidocephaly-synostosis syndrome) The antley-bixler syndrome Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation inPORgene: Antley-bixler syndrome phenotype in three sibling fetuses Tracheal Cartilaginous Sleeve in Apert Syndrome Antley-Bixler syndrome Tracheal cartilaginous sleeve contributing to obstructive sleep apnea in a child with Crouzon syndrome |
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