Ontology highlight
ABSTRACT:
SUBMITTER: Sanchez-Montenegro C
PROVIDER: S-EPMC5288506 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Sánchez-Montenegro Carlos C Vilanova-Sánchez Alejandra A Barrena-Delfa Saturnino S Tenorio Jair J Santos-Simarro Fernando F García-Miñaur Sixto S Lapunzina Pablo P Martínez-Martínez Leopoldo L
Case reports in genetics 20170119
Costello syndrome is caused by heterozygous de novo missense mutations in the protooncogene <i>HRAS</i> with tumor predisposition, especially rhabdomyosarcoma. We here report two pediatric patients with Costello syndrome and umbilical ligament rhabdomyosarcoma. A review of the literature published in English in MEDLINE from January 1971 to June 2016 using the search terms "Costello syndrome" and "rhabdomyosarcoma" was performed, including two new cases that we describe. Twenty-six patients with ...[more]