A. B. Byrne, S. Mizumoto, P. Arts, P. Yap, J. Feng, A. W. Schreiber, M. Babic, S. L. King-Smith, C. P. Barnett, L. Moore, K. Sugahara, H. Mutlu-Albayrak, G. Nishimura, J. E. Liebelt, S. Yamada, R. Savarirayan, H. S. Scott: Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. In: Journal of Medical Genetics. Band 57, Nummer 7, 07 2020, S. 454–460, doi:10.1136/jmedgenet-2019-106700, PMID 31988067, PMC 7361035 (freier Volltext).
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G. R. Burgio, C. Belloni, G. Beluffi: Nanisme pseudodiastrophique: etude de deux soeurs nouveau-nees. In: Archives françaises de pédiatrie. Band 31, Nummer 7, 1974 Aug-Sep, S. 681–696, ISSN0003-9764. PMID 4217148.
A. B. Byrne, S. Mizumoto, P. Arts, P. Yap, J. Feng, A. W. Schreiber, M. Babic, S. L. King-Smith, C. P. Barnett, L. Moore, K. Sugahara, H. Mutlu-Albayrak, G. Nishimura, J. E. Liebelt, S. Yamada, R. Savarirayan, H. S. Scott: Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. In: Journal of Medical Genetics. Band 57, Nummer 7, 07 2020, S. 454–460, doi:10.1136/jmedgenet-2019-106700, PMID 31988067, PMC 7361035 (freier Volltext).
G. R. Burgio, C. Belloni, G. Beluffi: Nanisme pseudodiastrophique: etude de deux soeurs nouveau-nees. In: Archives françaises de pédiatrie. Band 31, Nummer 7, 1974 Aug-Sep, S. 681–696, ISSN0003-9764. PMID 4217148.