Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia
内皮素受体A型基因突变会导致下颌面骨发育不全伴脱发
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.01.015.
Christopher T Gordon ,K Nicole Weaver ,Roseli Maria Zechi-Ceide ,Erik C Madsen ,Andre L P Tavares ,Myriam Oufadem ,Yukiko Kurihara ,Igor Adameyko ,Arnaud Picard ,Sylvain Breton ,Sébastien Pierrot ,Martin Biosse-Duplan ,Norine Voisin ,Cécile Masson ,Christine Bole-Feysot ,Patrick Nitschké ,Marie-Ange Delrue ,Didier Lacombe ,Maria Leine Guion-Almeida ,Priscila Padilha Moura ,Daniela Gamba Garib ,Arnold Munnich ,Patrik Ernfors ,Robert B Hufnagel ,Robert J Hopkin ,Hiroki Kurihara ,Howard M Saal ,David D Weaver ,Nicholas Katsanis ,Stanislas Lyonnet ,Christelle Golzio ,David E Clouthier ,Jeanne Amiel
