Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation

by Maria J. Recio, Maria J. Recio, Nerea Dominguez-Pinilla, Nerea Dominguez-Pinilla, Melina Soledad Perrig, Melina Soledad Perrig, Carmen Rodriguez Vigil-Iturrate, Nerea Salmón-Rodriguez, Nerea Salmón-Rodriguez, Nerea Salmón-Rodriguez, Cristina Martinez Faci, María J. Castro-Panete, Javier Blas-Espada, Javier Blas-Espada, Marta López-Nevado, Marta López-Nevado, Raquel Ruiz-Garcia, Raquel Ruiz-Garcia, Rebeca Chaparro-García, Luis M. Allende, Luis M. Allende, Luis Ignacio Gonzalez-Granado, Luis Ignacio Gonzalez-Granado, Luis Ignacio Gonzalez-Granado
Published 2019-01-01