SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.05.009
Abstract: The spinal muscular atrophies (SMA) affect lower motor neurons leading to important muscle atrophy and paralysis. Some cases of SMA affect mostly the lower limbs and are called autosomal dominant spinal muscular atrophy, lower extremity… read more here.
Keywords: phenotype; gene mutations; bicd2 gene; mutations report ... See more keywords
Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
Sign Up to like & getrecommendations! Published in 2018 at "Jornal Brasileiro De Patologia E Medicina Laboratorial"
DOI: 10.5935/1676-2444.20180056
Abstract: Paediatric cystic nephroma is a neoplasm of uncertain pathogenesis characterized by a multilocular architecture that develops in children. Some cases may be sporadic, and others may present a familial association, together with other neoplasms, as… read more here.
Keywords: nephroma; mutations report; dicer1 mutations; cystic nephroma ... See more keywords