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Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

Biallelic loss‐of‐function mutations in the centrosomal pericentrin gene (PCNT) cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII), which is characterized by extreme growth retardation, microcephaly, skeletal dysplasia, and dental anomalies. Life expectancy is reduced due to a...

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Detalles Bibliográficos
Autores principales:	Waich, Stephanie, Janecke, Andreas R., Parson, Walther, Greber‐Platzer, Susanne, Müller, Thomas, Huber, Lukas A., Valovka, Taras, Vodopiutz, Julia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2020
Materias:	Short Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497047/ https://www.ncbi.nlm.nih.gov/pubmed/32557621 http://dx.doi.org/10.1111/cge.13797

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