Title Page / Table of Contents

2019 Molecular Syndromology  
Malde, O. (London); Libby, J. (Hull); Moazen, M. (London) 83 Syndromic Craniosynostosis: Complexities of Clinical Care O'Hara, J.; Ruggiero, F.; Wilson, L.; James, G.; Glass, G.; Jeelani, O.; Ong, J.; Bowman, R.; Wyatt, M.; Evans, R.; Samuels, M.; Hayward, R.; Dunaway, D.J. (London) Original Article 98 An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis Seda, M.; Geerlings, M.; Lim, P.; Jeyabalan-Srikaran, J.; Cichon, A.-C.; Scambler,
more » ... .-C.; Scambler, P.J.; Beales, P.L.; Hernandez-Hernandez, V.; Stoker, A.W.; Jenkins, D. (London) E-Mail karger@karger.com www.karger.com © 2020 S. Karger AG, Basel Access to full text and tables of contents, including tentative ones for forthcoming issues: www.karger.com/msy_issues Review Article 115 Current Approaches in the Development of Molecular and Pharmacological Therapies in Craniosynostosis Utilizing Animal Models Rachwalski, M.; Khonsari, R.H.; Paternoster, G. (Paris) 124 Author Index 125 Subject Index 147 Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature Bertini, V.; Valetto, A.; Baldinotti, F.; Azzarà, A.; Cambi, F.; Toschi, B.; Giacomina, A.; Gatti, G.L.; Gana, S.; Caligo, M.A.; Bertelloni, S. (Pisa) 154 Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant Faye, E.; Modaff, P.; Pauli, R.; Legare, J. (Madison, WI) Moretti, P.N.; P. de Oliveira, C.; A. Rosa, M.T.; R. Versiani, B.; de Oliveira, S.F.; Pic-Taylor, A.; F. Mazzeu, J. (Brasília) 209 Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing Pons, L. (Bron); Bouvagnet, P. (Bron/Villeurbanne); Bakloul, M. (Bron); Di Filippo, S. (Villeurbanne/Bron); Buisson, A. (Bron); Chatron, N. (Bron/ Villeurbanne); Labalme, A.; Metton, O.; Mitchell, J.; Diguet, F.; Rollat-Farnier, P.-A. (Bron);
doi:10.1159/000505765 fatcat:bizinep2sbfi5ldpmtf3bvrbyu