Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
Plos One
Rosset, Clévia C; Vairo, Filippo F; Bandeira, Isabel Cristina IC; Correia, Rudinei Luis RL; de Goes, Fernanda Veiga FV; da Silva, Raquel Tavares Boy RTB; Bueno, Larissa Souza Mario LSM; de Miranda Gomes, Mireille Caroline Silva MCS; Galvão, Henrique de Campos Reis HCR; Neri, João I C F JICF; Achatz, Maria Isabel MI; Netto, Cristina Brinckmann Oliveira CBO; Ashton-Prolla, Patricia P
Publication Date: 2017
Variant appearance in text: TSC2: 2355+1_2355+4del
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
European Journal Of Human Genetics : Ejhg
Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR
Publication Date: 2015-12
Variant appearance in text: TSC2: 2355+2_2355+5del