Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
内皮素1基因突变会导致隐性耳廓髁综合征和显性孤立性问号耳。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.10.023.
Christopher T Gordon ,Florence Petit, Peter M Kroisel, Linda Jakobsen, Roseli Maria Zechi-Ceide, Myriam Oufadem, Christine Bole-Feysot, Solenn Pruvost, Cécile Masson, Frédéric Tores, Thierry Hieu, Patrick Nitschké, Pernille Lindholm, Philippe Pellerin, Maria Leine Guion-Almeida, Nancy Mizue Kokitsu-Nakata, Siulan Vendramini-Pittoli, Arnold Munnich, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel