PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

Author:

Ahmad N N,McDonald-McGinn D M,Dixon P,Zackai E H,Tasman W S

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. Hereditary progressive arthro-ophthalmopathy;Stickler, G.B.; Belau, P.G.; Farrell, F.J.

2. The Stickler syndrome;Opitz, J.M.; France, T.; Hermann, J.; Springer, J.W.;N Englj Med,1972

3. Hereditary progressive arthro-ophthalmopathy of Stickler;Blair, N.P.; Albert, D.M.; Lieberfarb, R.M.; Hirose, T.;Am J Ophthalmol,1993

4. Stop codon in the procollagen gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy);Ahmad, N.N.; Ala-Kokko, L.; Knowlton, R.G.;Proc Natl Acad Sci USA,1991

5. Procollagen II gene mutation in Stickler syndrome;Brown, D.M.; Nichols, B.E.; Weingist, T.A.; Sheffield, V.C.; Kimura, A.E.; Stone, E.M.;Arch Ophthalmol,1992

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1. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review;Ophthalmic Genetics;2020-04-21

2. Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis;Ophthalmic Surgery, Lasers and Imaging Retina;2017-01

3. Developmental and childhood glaucoma;Becker-Shaffer's Diagnosis and Therapy of the Glaucomas;2009

4. Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts;Graefe's Archive for Clinical and Experimental Ophthalmology;2007-06-20

5. Ophtalmologie infantile;EMC - Pédiatrie - Maladies infectieuses;2007-01

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