Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschke P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Am J Hum Genet 93:1118-25 (2013)
DOI:10.1016/j.ajhg.2013.10.023