Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots
Sign Up to like & getrecommendations! Published in 2018 at "Documenta Ophthalmologica"
DOI: 10.1007/s10633-018-9639-9
Abstract: PurposeTo describe the finding of circularly grouped hypomelanotic spots in the central macula of a patient with syndromic characteristics.MethodsCase report of a patient with albinotic spots grouped within the macula, café au lait spots, and… read more here.
Keywords: caf lait; lait spots; hemihypertrophy caf; albinotic spots ... See more keywords
Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.13932
Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase… read more here.
Keywords: nf1 gene; family; tibial pseudarthrosis; lait spots ... See more keywords