TY  - GEN
AU  - Gordon,Christopher T
AU  - Petit,Florence
AU  - Kroisel,Peter M
AU  - Jakobsen,Linda
AU  - Zechi-Ceide,Roseli Maria
AU  - Oufadem,Myriam
AU  - Bole-Feysot,Christine
AU  - Pruvost,Solenn
AU  - Masson,Cécile
AU  - Tores,Frédéric
AU  - Hieu,Thierry
AU  - Nitschké,Patrick
AU  - Lindholm,Pernille
AU  - Pellerin,Philippe
AU  - Guion-Almeida,Maria Leine
AU  - Kokitsu-Nakata,Nancy Mizue
AU  - Vendramini-Pittoli,Siulan
AU  - Munnich,Arnold
AU  - Lyonnet,Stanislas
AU  - Holder-Espinasse,Muriel
AU  - Amiel,Jeanne
TI  - Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
SN  - 1537-6605
PY  - 2014///0212
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - DNA Mutational Analysis
KW  - Ear
KW  - abnormalities
KW  - Ear Diseases
KW  - diagnosis
KW  - Endothelin-1
KW  - genetics
KW  - Female
KW  - Genes, Dominant
KW  - Genes, Recessive
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Sequence Alignment
KW  - Signal Transduction
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2013.10.023
ER  -