A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II

BACKGROUND: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare autosomal recessive disorder characterized by severe pre‐ and postnatal growth restrictions, microcephaly, skeletal dysplasia, severe teeth deformities, and typical facial features. Previous studies have shown...

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Detalles Bibliográficos
Autores principales: Liu, Haifeng, Tao, Na, Wang, Yan, Yang, Yang, He, Xiaoli, Zhang, Yu, Zhou, Yuantao, Liu, Xiaoning, Feng, Xingxing, Sun, Meiyuan, Xu, Fang, Su, Yanfang, Li, Li
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/PMC8457697/
https://www.ncbi.nlm.nih.gov/pubmed/34331829
http://dx.doi.org/10.1002/mgg3.1761

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