Male to Male Transmission of Costello Syndrome: G12S HRAS Germline Mutation Inherited from a Father with Somatic Mosaicism

Costello syndrome is a rare congenital anomaly syndrome associated with mental retardation and predisposition to benign and malignant tumors, caused by heterozygous missense mutations in the HRAS oncogene. Previously, all molecularly analyzed mutations appeared de novo, and most arose in the paterna...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Sol-Church, Katia, Stabley, Deborah L., Demmer, Laurie A, Agbulos, Abigail, Lin, Angela E., Smoot, Leslie, Nicholson, Linda, Gripp, Karen W.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2653086/
https://ncbi.nlm.nih.gov/pubmed/19206176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32639
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky