Ara
Toplam kayıt 1, listelenen: 1-1
Identification Of Loss-Of-Function Mutations Of Slc35D1 In Patients With Schneckenbecken Dysplasia, But Not With Other Severe Spondylodysplastic Dysplasias Group Diseases
(Bmj Publishing Group, 2009)
Background: Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal ...