Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6
马修-伍德综合征是由视黄醇结合蛋白受体基因STRA6的截断突变引起的。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/518177
Golzio, Christelle; Martinovic-Bouriel, Jelena; Thomas, Sophie; Mougou-Zrelli, Soumaya; Grattagliano-Bessieres, Bettina; Bonniere, Maryse; Delahaye, Sophie; Munnich, Arnold; Encha-Razavi, Ferechte; Lyonnet, Stanislas; Vekemans, Michel; Attie-Bitach, Tania; Etchevers, Heather C
