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