TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.104060
Abstract: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by non-cancerous tumors in multiple organs including the brain, kidney, lung, heart, and skin. We encountered a Japanese family consisting of two siblings (a… read more here.
Keywords: two aberrant; aberrant transcripts; deletion; cardiac rhabdomyomas ... See more keywords
LGG-28. NOVEL BRAF INTRAGENIC DELETION IN A GLIOMA: A CASE REPORT OF A PEDIATRIC PATIENT
Sign Up to like & getrecommendations! Published in 2020 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noaa222.410
Abstract: Abstract BACKGROUND Numerous variant BRAF genetic alterations have been associated with malignancies. BRAF activating fusions/mutations are frequently present in low grade gliomas. BRAF intragenic deletions have been reported in melanoma, but have not previously been… read more here.
Keywords: braf intragenic; glioma; braf; deletion ... See more keywords
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene
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DOI: 10.1159/000480030
Abstract: Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial… read more here.
Keywords: maternally inherited; angelman syndrome; deletion; ube3a gene ... See more keywords
High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Endocrinology"
DOI: 10.1530/eje-19-0771
Abstract: Context Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. Objective To assess the frequency of pathogenic ACAN variants in selected individuals. Design The single-center cohort study was… read more here.
Keywords: short stature; pathogenic acan; acan variants; intragenic deletion ... See more keywords