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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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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2019
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| 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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