2015
A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon
Bayram A, Per H, Quon J, Canpolat M, Ülgen E, Doğan H, Gumus H, Kumandas S, Bayram N, Bilguvar K, Çağlayan AO. A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon. European Journal Of Paediatric Neurology 2015, 19: 743-746. PMID: 26190014, DOI: 10.1016/j.ejpn.2015.06.003.Peer-Reviewed Original Research
2014
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation
Tüysüz B, Yılmaz S, Erener-Ercan T, Bilguvar K, Günel M. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. Pediatric Radiology 2014, 45: 771-776. PMID: 25256152, DOI: 10.1007/s00247-014-3159-x.Peer-Reviewed Original ResearchConceptsYears of ageShort statureRadiologic findingsJoint laxityMidface hypoplasiaLeptodactylic typeSevere genu valgumTypical radiologic findingsPostnatal short statureDe novo p.Whole-exome sequencingInitial radiographsSevere involvementRadiographic findingsHip dislocationGenu valgumKnee subluxationLigamentous laxitySmall epiphysisRare disorderDistal metaphysisProximal phalanxRadiologic hallmarksNovo p.First examination