Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects
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منابع مشابه
Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts
Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained. Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G...
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15 صفحه اولHeart defects and ocular anomalies in children with Down's syndrome.
AIMS To investigate whether ocular anomalies are associated with congenital heart defects in children with Down's syndrome. METHODS 58 children with Down's syndrome were entered into a retrospective observational study. Children were assigned to heart defect groups based on medical records. Optometric tests had previously been carried out at the homes of the children. RESULTS A relation bet...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2015
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2015.04.017