Other Neurology

De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities
Roya Bina, Dena Matalon, Brieana Fregeau, Jacqueline Joani Tarsitano, Ingvild Aukrust, Gunnar Houge, Renee Bend, Hannah Warren, Roger E Stevenson, Kyra Eva Stuurman, A James Barkovich, Elliott H. Sherr

Journal of Medical Genetics Jul 2020, 57 (7) 461-465; DOI: 10.1136/jmedgenet-2019-106193
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
Emma MM Burkitt Wright, Emma Sach, Saba Sharif, Oliver Quarrell, Thomas Carroll, Richard W Whitehouse, Meena Upadhyaya, Susan M Huson, D Gareth R Evans

Journal of Medical Genetics Sep 2013, 50 (9) 606-613; DOI: 10.1136/jmedgenet-2013-101648
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines
Erin Conboy, Radhika Dhamija, Margaret Wang, Jing Xie, P James Dyck, Alina G Bridges, Robert J Spinner, Amy C Clayton, Robert E Watson, Ludwine Messiaen, Dusica Babovic-Vuksanovic

Journal of Medical Genetics Feb 2016, 53 (2) 123-126; DOI: 10.1136/jmedgenet-2015-103177
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Anna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, Maria Pettersson, Wolfgang Hofmeister, Britt-Marie Anderlid, Sarina G. Kant, Claudia A L Ruivenkamp, Peter Gustavsson, Helena Valta, Stefan Geiberger, Alexandra Topa, Kristina Lagerstedt-Robinson, Fulya Taylan, Josephine Wincent, Tobias Laurell, Minna Pekkinen, Magnus Nordenskjöld, Outi Mäkitie, Ann Nordgren

Journal of Medical Genetics Jan 2014, 51 (1) 45-54; DOI: 10.1136/jmedgenet-2013-101937

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Other Neurology