Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

6533b81ffe1ef96bd12786b3

RESEARCH PRODUCT

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

Constantino Morera Manuela Villamar Felipe Moreno Antonio Viñuela Matías Morín M A Moreno-pelayo Ignacio Del Castillo Laura Cavallé M. José Lavilla

subject

Genetics Male Endothelin-3 Waardenburg Syndrome Type IV Base Sequence Genotype Genetic heterogeneity SOXE Transcription Factors DNA Mutational Analysis Molecular Sequence Data Biology Models Biological Pedigree Consanguinity Genetic Heterogeneity Phenotype Genetics Humans Waardenburg Syndrome Amino Acid Sequence Hirschsprung Disease Child Genetics (clinical)

year	journal	country	edition	language
2009-10-01	American journal of medical genetics. Part A

10.1002/ajmg.a.33026 https://pubmed.ncbi.nlm.nih.gov/19764030

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