The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior microphthalmia (MCOP) from different ethnicities. An ophthalmological assessment in all families was followed by targete...

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Publicat a:Sci Rep
Autors principals: Almoallem, Basamat, Arno, Gavin, De Zaeytijd, Julie, Verdin, Hannah, Balikova, Irina, Casteels, Ingele, de Ravel, Thomy, Hull, Sarah, Suzani, Martina, Destrée, Anne, Peng, Michelle, Williams, Denise, Ainsworth, John R., Webster, Andrew R., Leroy, Bart P., Moore, Anthony T., De Baere, Elfride
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6987234/
https://ncbi.nlm.nih.gov/pubmed/31992737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-57338-2
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