Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs-Reference-Cited by-同舟云学术

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Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs

Published:1999-01 Issue:2 Volume:20 Page:127-131
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Lorda-Sanchez Isabel,Trujillo Maria Jose,Gimenez Ascensión,Garcia-Sandoval Blanca,Franco Angeles,Sanz Raul,Rodriguez de Alba Marta,Ramos Carmen,Ayuso Carmen

Publisher

Swets & Zeitlinger Publishers

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.1076/opge.20.2.127.2289

Reference3 articles.

1. Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel small deletion in CWC27 gene associated with CWC27 -related spliceosomeopathy;Ophthalmic Genetics;2024-07-02

2. Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report;Medicine;2023-12-22

3. Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy;Journal of Human Genetics;2019-09-03

4. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies;The American Journal of Human Genetics;2017-04

5. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11;Human Molecular Genetics;2014-06-10

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