Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.

Fernández, Raquel M

Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain. [electronic resource] - American journal of medical genetics. Part A Feb 2014 - 542-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.36302 doi


Amino Acid Sequence
Amino Acid Substitution
Child, Preschool
DNA Mutational Analysis
Exons
Gene Order
Hirschsprung Disease
Humans
Male
Molecular Sequence Data
Mutation
Phenotype
SOXE Transcription Factors--genetics
Spain
Waardenburg Syndrome--diagnosis