A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata

BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from defects of peroxisomal metabolism whose clinical phenotype is characterized by rhizomelia, calcified foci in periarticular cartilage, coronal lesions of vertebral bodies, cataracts and severe cognitive delay....

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Detalles Bibliográficos
Autores principales: Cordisco, Adalgisa, Pelo, Elisabetta, Di Tommaso, Mariarosaria, Biagiotti, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404227/
https://www.ncbi.nlm.nih.gov/pubmed/34110102
http://dx.doi.org/10.1002/mgg3.1733

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404227/
https://www.ncbi.nlm.nih.gov/pubmed/34110102
http://dx.doi.org/10.1002/mgg3.1733

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