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Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene

Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal g...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Alrajhi, Hamdan, Alallah, Jubara, Shawli, Aiman, Alghamdi, Khalid, Hakami, Fahad
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6557317/
https://ncbi.nlm.nih.gov/pubmed/31151966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-224197
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