SPOAN syndrome: a novel mutation and new ocular findings; a case report
نویسندگان
چکیده
منابع مشابه
MSX1 Mutation in Witkop Syndrome; A Case Report
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...
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ژورنال
عنوان ژورنال: BMC Neurology
سال: 2021
ISSN: 1471-2377
DOI: 10.1186/s12883-021-02051-9