Normal early development in siblings with novel compound heterozygous variants in ASPM
نویسندگان
چکیده
منابع مشابه
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
PURPOSE The gene encoding nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) was recently found to be mutated in a subset of patients with Leber congenital amaurosis (LCA) with macular atrophy. The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies. METHODS DNA samples of 161 pat...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2019
ISSN: 2054-345X
DOI: 10.1038/s41439-019-0088-0