CNS malformations in Knobloch syndrome with splice mutation inCOL18A1 gene-Reference-Cited by-同舟云学术

CNS malformations in Knobloch syndrome with splice mutation inCOL18A1 gene

Published:2007 Issue:13 Volume:143A Page:1514-1518
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Keren Boris,Suzuki Oscar T.,Gérard-Blanluet Marion,Brémond-Gignac Dominique,Elmaleh Monique,Titomanlio Luigi,Delezoide Anne-Lise,Passos-Bueno Maria Rita,Verloes Alain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Autosomal Recessive Vitreoretinopathy and Encephaloceles

2. The second report of Knobloch syndrome

3. Lack of collagen XVIII/endostatin results in eye abnormalities

4. Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families

Cited by 35 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. Knobloch syndrome;Radiopaedia.org;2024-07-10

2. Knobloch Syndrome Type 1 with a Novel Pathogenic Variant in the COL18A1 Gene: Case Report and Review of the Literature;Journal of Pediatric Neurology;2024-05-29

3. Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature;Ophthalmic Genetics;2022-04-06

4. Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings;Neurocase;2022-01-02

5. Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis;Ophthalmic Genetics;2021-11-09