Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference9 articles.
1. Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness
2. Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: Expanded spectrum of Lowry-Wood syndrome?
3. Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus*
4. Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.
5. Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia—Lowry-Wood syndrome
Cited by 14 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. Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature;American Journal of Medical Genetics Part A;2021-08-18
2. Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype;Human Genetics;2018-10-27
3. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome;American Journal of Medical Genetics Part A;2017-12-19
4. Retinal dystrophies with systemic associations and the retinal ciliopathies;Taylor and Hoyt's Pediatric Ophthalmology and Strabismus;2017
5. Pediatric retinal degeneration in systemic inherited diseases;Pediatric Ophthalmology and Strabismus;2013
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