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Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

BACKGROUND: Pseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early lethality. Clinically, PDD is classified as a ‘dysplasia with multiple joint dislocations’; however, the molecular aetiology of the disorder is currently unknown. METHODS: Wh...

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Detalles Bibliográficos
Autores principales:	Byrne, Alicia B, Mizumoto, Shuji, Arts, Peer, Yap, Patrick, Feng, Jinghua, Schreiber, Andreas W, Babic, Milena, King-Smith, Sarah L, Barnett, Christopher P, Moore, Lynette, Sugahara, Kazuyuki, Mutlu-Albayrak, Hatice, Nishimura, Gen, Liebelt, Jan E, Yamada, Shuhei, Savarirayan, Ravi, Scott, Hamish S
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Genotype-Phenotype Correlations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7361035/ https://www.ncbi.nlm.nih.gov/pubmed/31988067 http://dx.doi.org/10.1136/jmedgenet-2019-106700

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