Unilateral retinocytoma associated with a variant in the RB1 gene
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DOI: 10.1002/mgg3.1156
Abstract: Retinocytoma is a rare benign retinal tumor associated with variants in the RB1 gene. Ophthalmoscopic features can include a translucent retinal mass, calcification, retinal pigment epithelial alteration and chorioretinal atrophy. read more here.
Keywords: unilateral retinocytoma; rb1 gene; retinocytoma; retinocytoma associated ... See more keywords
A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0640-2
Abstract: BackgroundFemale carriers of a balanced X; autosome translocation generally undergo selective inactivation of the normal X chromosome. This is because inactivation of critical genes within the autosomal region of the derivative translocation chromosome would compromise… read more here.
Keywords: rb1 gene; intellectual disability; retinoblastoma; translocation ... See more keywords