January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
8 citations
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October 2022 in “Journal of Mind and Medical Sciences” Reducing accidents and treating vascular diseases can lower the need for life-impacting amputations.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
32 citations
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February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
16 citations
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July 2019 in “Journal of Cellular Biochemistry” Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.