Citations for
1PAPSS2, SEMD4
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S.
Hum Mutat 34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26. 2013
2BCYM4, SEMD4
Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.
Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M.
Am J Med Genet A 161A(6):1300-8. doi: 10.1002/ajmg.a.35906. Epub 2013 Apr 30. 2013
3PAPSS2, SEMD4
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
Faiyaz ul Haque M, et al.
Nat Genet 20 : 157-162. 1998