Stickler syndrome in children: a radiological review-Reference-Cited by-同舟云学术

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Stickler syndrome in children: a radiological review

Published:2018-07 Issue:7 Volume:73 Page:678.e13-678.e18
ISSN:0009-9260
Container-title:Clinical Radiology
language:en
Short-container-title:Clinical Radiology

Author:

McArthur N.,Rehm A.,Shenker N.,Richards A.J.,McNinch A.M.,Poulson A.V.,Tanner J.,Snead M.P.,Bearcroft P.W.P.

Publisher

Elsevier BV

Subject

Radiology Nuclear Medicine and imaging,General Medicine

Reference29 articles.

1. Hereditary progressive arthro-ophthalmopathy;Stickler;Mayo Clin Proc,1965

2. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy);Ahmad;Proc Natl Acad Sci U S A,1991

3. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen;Richards;Hum Mol Genet,1996

4. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene;Van Camp;Am J Hum Genet,2006

5. Marshall syndrome associated with a splicing defect at the COL11A1 locus;Griffith;Am J Hum Genet,1998

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1. Collagen diseases;Biochemistry of Collagens, Laminins and Elastin;2024

2. Legg-Calve-Perthes’ disease: an opportunity to prevent blindness?;Archives of Disease in Childhood;2023-03-07

3. Quality of Life in Children and Adolescents with Stickler Syndrome in Spain;Children;2022-08-19

4. Familial vitreoretinopathies;Clinical Ophthalmic Genetics and Genomics;2022

5. Stickler syndrome – lessons from a national cohort;Eye;2021-10-05

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