This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported.
Citation: BMC Medical Genetics 2019 20:41