A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

by Simran Madan, Wei Liu, James T. Lu, V. Reid Sutton, Bryant Toth, Priscilla Joe, John R. Waterson, Richard A. Gibbs, Ignatia B. Van den Veyver, Edward J. Lammer, Philippe M. Campeau, Brendan H. Lee
Published 2017-09-01