Gordon, Christopher T

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. [electronic resource] - American journal of human genetics Dec 2013 - 1118-25 p. digital

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

1537-6605

10.1016/j.ajhg.2013.10.023 doi


Amino Acid Sequence
Amino Acid Substitution
DNA Mutational Analysis
Ear--abnormalities
Ear Diseases--diagnosis
Endothelin-1--genetics
Female
Genes, Dominant
Genes, Recessive
Genotype
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Sequence Alignment
Signal Transduction