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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Sci Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2020
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi