Intragenic Deletions in <i>FLNB</i> Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

by Kaya Fukushima, Padmini Parthasarathy, Emma M. Wade, Tim Morgan, Kalpana Gowrishankar, David M. Markie, Stephen P. Robertson
Published 2021-04-01

Deletion of Exon 1 in <i>AMER1</i> in Osteopathia Striata with Cranial Sclerosis

by Jingyi Mi, Padmini Parthasarathy, Benjamin J. Halliday, Tim Morgan, John Dean, Malgorzata J. M. Nowaczyk, David Markie, Stephen P. Robertson, Emma M. Wade
Published 2020-11-01