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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Veröffentlicht in:Sci Rep
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2020
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Article
Online Zugang: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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