Subjects: DISOSTOSE MANDIBULOFACIAL, MUTAÇÃO GENÉTICA, FENÓTIPOS, CONVULSÕES
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PALAGANO, Eleonora et al. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. Bone, v. 153, p. 7 , 2021Tradução . . Disponível em: https://doi.org/10.1016/j.bone.2021.116152. Acesso em: 14 nov. 2024.APA
Palagano, E., Gordon, C. T., Uva, P., Strina, D., Dimartino, C., Villa, A., et al. (2021). A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. Bone, 153, 7 . doi:10.1016/j.bone.2021.116152NLM
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Pittoli SVP, Nakata NMK, Zechi-Ceide RM, Sobacchi C. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects [Internet]. Bone. 2021 ; 153 7 .[citado 2024 nov. 14 ] Available from: https://doi.org/10.1016/j.bone.2021.116152Vancouver
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Pittoli SVP, Nakata NMK, Zechi-Ceide RM, Sobacchi C. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects [Internet]. Bone. 2021 ; 153 7 .[citado 2024 nov. 14 ] Available from: https://doi.org/10.1016/j.bone.2021.116152