Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Cited by 23 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. Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco–Sjögren syndrome patients;Molecular Biology Reports;2024-07-26
2. Congenital cataracts, facial dysmorphism and neuropathy syndrome;ANASTH INTENSIVMED;2023
3. Novel Ocular Features in a Child with Marinesco-Sjögren Syndrome: Case Report and Literature Review;SN Comprehensive Clinical Medicine;2021-05-29
4. Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome;Clinica Chimica Acta;2016-07
5. Congenital Cataracts, Facial Dysmorphism, and Neuropathy: Two Affected Siblings in the United Kingdom;Journal of Pediatric Neurology;2016-06-01
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