[HTML][HTML] Bibliometric analysis of microphthalmos and anophthalmos over 20 years: from 2004 to 2023
MH Wang, GF Li, J Zhang - International Journal of …, 2024 - pmc.ncbi.nlm.nih.gov
AIM To conduct a bibliometric analysis of studies on microphthalmos and anophthalmos
(M/A), explore research hotspots, and provide information on future research interests in this …
(M/A), explore research hotspots, and provide information on future research interests in this …
Expanding what we know about rare genetic diseases
A McNeill - European Journal of Human Genetics, 2023 - nature.com
In this issue, we have a selection of papers describing the genotypes and phenotypes of a
range of rare (and ultra rare) diseases. Terradas et al. provide important confirmation that …
range of rare (and ultra rare) diseases. Terradas et al. provide important confirmation that …
Two novel variants in ALDH1A3 associated with anophthalmia and congenital cystic eye
R Rodrigues, J Meira, V Leal, J Parente Freixo… - Ophthalmic …, 2024 - Taylor & Francis
Purpose We present the case of a newborn with right anophthalmia, left congenital cystic
eye, and two novel variants in the ALDH1A3 gene. This report provides a comprehensive …
eye, and two novel variants in the ALDH1A3 gene. This report provides a comprehensive …