Mosaic pathogenic HRAS variant in a patient with nevus spilus with agminated Spitz nevi and parametrial–uterine rhabdomyosarcoma
Sign Up to like & getrecommendations! Published in 2018 at "British Journal of Dermatology"
DOI: 10.1111/bjd.16155
Abstract: DEAR EDITOR, The role of HRAS mutations in the pathogenesis of various human cancers is well established. Recent studies indicate that cutaneous nevi can also harbour HRAS, KRAS and NRAS mutations and this group of… read more here.
Keywords: variant patient; hras variant; rhabdomyosarcoma; pathogenic hras ... See more keywords
New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13436
Abstract: To the Editor: We report a Hispanic female with significant delay in intellectual and motor development, microcephaly, hypotonia, deafness, congenital heart defects including a patent ductus arteriosus and a bicuspid aortic valve, and craniofacial features… read more here.
Keywords: variant patient; new smarce1; oculoauriculofrontonasal syndrome; features overlapping ... See more keywords
BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia: A case report
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DOI: 10.3892/ol.2018.9015
Abstract: [This corrects the article DOI: 10.3892/ol.2017.7711.]. read more here.
Keywords: variant patient; unclassified variant; brca1 homozygous; patient non ... See more keywords