Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema, are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardat...

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Detalhes bibliográficos
Main Authors: Mirzaa, Ghayda M., Enyedi, Laura, Parsons, Gretchen, Collins, Sarah, Medne, Livija, Adams, Carissa, Ward, Thomas, Davitt, Bradley, Bicknese, Alma, Zackai, Elaine, Toriello, Helga, Dobyns, William B., Christian, Susan
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4205200/
https://ncbi.nlm.nih.gov/pubmed/25115524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36707
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