Ophthalmic manifestations of Czech dysplasia.

Soh, Zack; Martin, Howard; Richards, Allan J; Suri, Mohnish; Snead, Martin P

Soh, Zack; Martin, Howard; Richards, Allan J; Suri, Mohnish; Snead, Martin P.

Affiliation

Soh Z; Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.
Martin H; Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.
Richards AJ; Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.
Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Snead MP; Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.

Am J Med Genet A ; 194(4): e63480, 2024 Apr.

Article in En | MEDLINE | ID: mdl-37982325

Subject(s)

Arthritis; Connective Tissue Diseases; Hearing Loss, Sensorineural; Osteochondrodysplasias; Retinal Detachment; Toes/abnormalities; Humans; Connective Tissue Diseases/genetics; Hearing Loss, Sensorineural/genetics; Retinal Detachment/diagnosis; Retinal Detachment/genetics; Arthritis/genetics; Mutation; Collagen Type II/genetics; Pedigree

Key words

Czech dysplasia; connective tissue diseases; retinal detachment

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Arthritis / Retinal Detachment / Toes / Connective Tissue Diseases / Hearing Loss, Sensorineural Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2024 Type: Article Affiliation country: United kingdom

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