Condition: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME


rs1057517941 in SPRED1 gene and NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME PMID 25074460 2015 Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

PMID 19443465 2009 SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

PMID 19366998 2009 SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

PMID 17704776 2007 Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 25981987 2015 Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome.

PMID 21649642 2011 Identification of five novel SPRED1 germline mutations in Legius syndrome.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 20108422 2010 Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.

PMID 22751498 2012 A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.

PMID 20179001 2010 SPRED 1 mutations in a neurofibromatosis clinic.

PMID 15683364 2005 Distinct requirements for the Sprouty domain for functional activity of Spred proteins.