Ocular characteristics in a variant microcephalic primordial dwarfism type II

• Main Authors: Wan-Ju Chen (Author), Fu-Chin Huang (Author), Min-Hsiu Shih (Author)
• Formato: Livro
• Publicado em: BMC, 2019-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract 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 documen...