TY  - GEN
AU  - Fernández,Raquel M
AU  - Núñez-Ramos,Raquel
AU  - Enguix-Riego,M Valle
AU  - Román-Rodríguez,Francisco José
AU  - Galán-Gómez,Enrique
AU  - Blesa-Sánchez,Emilio
AU  - Antiñolo,Guillermo
AU  - Núñez-Núñez,Ramón
AU  - Borrego,Salud
TI  - Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain
SN  - 1552-4833
PY  - 2014///0911
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Gene Order
KW  - Hirschsprung Disease
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Phenotype
KW  - SOXE Transcription Factors
KW  - genetics
KW  - Spain
KW  - Waardenburg Syndrome
KW  - diagnosis
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.36302
ER  -