Ocular characteristics in a variant microcephalic primordial dwarfism type II

BACKGROUND: Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is a rare disease that is assumed to be caused by a pericentrin (PCNT) gene mutation. Clinical manifestations have been reported in pediatrics and neurology; however, only a few ocular findings have been documented. CAS...

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Detalles Bibliográficos
Autores principales: Chen, Wan-Ju, Huang, Fu-Chin, Shih, Min-Hsiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737642/
https://www.ncbi.nlm.nih.gov/pubmed/31510961
http://dx.doi.org/10.1186/s12887-019-1685-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737642/
https://www.ncbi.nlm.nih.gov/pubmed/31510961
http://dx.doi.org/10.1186/s12887-019-1685-2

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