Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maram EA Abdalla Elsayed"'
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 36, Iss , Pp 102091- (2024)
Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar
Externí odkaz:
https://doaj.org/article/d45e60d758e44aceb7f2edaf7d9c8712
Publikováno v:
Molecular Vision
Purpose Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods Clinical exami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ac0b9f0c2d85ab67ca662489ba6d5c8
https://pubmed.ncbi.nlm.nih.gov/29204067
https://pubmed.ncbi.nlm.nih.gov/29204067