Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.

by A Mesut Erzurumluoglu, Muslim M Alsaadi, Santiago Rodriguez, Tahani S Alotaibi, Philip A I Guthrie, Sian Lewis, Aasiya Ginwalla, Tom R Gaunt, Khalid K Alharbi, Fahad M Alsaif, Basma M Alsaadi, Ian N M Day
Published 2015-01-01