Exploring Knobloch syndrome: A case series of two Indian families and a review of literature

This case series describes the clinical features and genetic testing results of four patients from two families affected by Knobloch syndrome (KS). KS is an autosomal recessive collagenopathy characterized by vitreoretinal degeneration, high myopia, retinal detachment, and occipital encephalocele. I...

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מידע ביבליוגרפי

Principais autores:	Darshan Bhatt, Muna Bhende, Areeba Shakeel, Pramod Bhende, Girish Shiva Rao, Kavitha Kalaivani, S Sripriya
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Wolters Kluwer Medknow Publications 2024-04-01
סדרה:	Indian Journal of Ophthalmology. Case Reports
נושאים:	encephalocele high myopia knobloch syndrome retinal detachment
גישה מקוונת:	https://journals.lww.com/10.4103/IJO.IJO_2867_23
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!