Načítá se...

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively; however, the majority of cas...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Eur J Hum Genet
Hlavní autoři: Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929874/
https://ncbi.nlm.nih.gov/pubmed/26130484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.155
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!