X-linked sensorineural hearing loss: a literature review
V Corvino, P Apisa, R Malesci, C Laria… - Current …, 2018 - ingentaconnect.com
Sensorineural hearing loss is a very diffuse pathology (about 1/1000 born) with several
types of transmission. X-linked hearing loss accounts for approximately 1%-2% of cases of …
types of transmission. X-linked hearing loss accounts for approximately 1%-2% of cases of …
[HTML][HTML] Rare eye diseases in India: A concise review of genes and genetics
N Jeyabalan, A Ghosh, GP Mathias… - Indian Journal of …, 2022 - journals.lww.com
Rare eye diseases (REDs) are mostly progressive and are the leading cause of irreversible
blindness. The disease onset can vary from early childhood to late adulthood. A high rate of …
blindness. The disease onset can vary from early childhood to late adulthood. A high rate of …
Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
D Sudha, S Neriyanuri, R Sachidanandam… - Plos one, 2018 - journals.plos.org
X-linked retinoschisis (XLRS) is a retinal degenerative disorder caused by mutations in RS1
gene leading to splitting of retinal layers (schisis) which impairs visual signal processing …
gene leading to splitting of retinal layers (schisis) which impairs visual signal processing …
Clinical and genetic analysis of Indian patients with NDP-related retinopathies
D Sudha, A Ganapathy, P Mohan, AU Mannan… - International …, 2018 - Springer
Purpose NDP-related retinopathies are a group of X-linked disorders characterized by
degenerative and proliferative changes of the neuroretina, occasionally accompanied with …
degenerative and proliferative changes of the neuroretina, occasionally accompanied with …
Whole‑exome sequencing identifies an RS1 variant in a Chinese family with X‑linked retinoschisis
D Chen, S Zhu - Experimental and Therapeutic …, 2021 - spandidos-publications.com
A notable behavioural feature of X‑linked retinoschisis (XLRS) is extensive structural schisis
(splitting) of the outer plexiform and inner nuclear layers of the neurosensory retina, which is …
(splitting) of the outer plexiform and inner nuclear layers of the neurosensory retina, which is …