Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature
Sign Up to like & getrecommendations! Published in 2017 at "BMC Medical Genetics"
DOI: 10.1186/s12881-017-0500-x
Abstract: BackgroundPatients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons… read more here.
Keywords: case; angelman syndrome; report; gene ... See more keywords
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome
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DOI: 10.3390/genes12040528
Abstract: Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in FLNB, MYH3, and possibly in RFLNA, have been reported to be responsible… read more here.
Keywords: synostosis; spondylocarpotarsal synostosis; intragenic deletions; synostosis syndrome ... See more keywords