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

Autor: Madan, Simran, Liu, Wei, Lu, James T., Sutton, V. Reid, Toth, Bryant, Joe, Priscilla, Waterson, John R., Gibbs, Richard A., Van den Veyver, Ignatia B., Lammer, Edward J., Campeau, Philippe M., Lee, Brendan H.
Zdroj: In Molecular Genetics and Metabolism Reports September 2017 12:57-61
Databáze: ScienceDirect