Article ID Journal Published Year Pages File Type
10163373 Pediatria Polska 2012 14 Pages PDF
Abstract
Our results deliver the first important information on the molecular basis of Costello syndrome in Polish population. They indicate that the identified missense mutations in HRAS are known substitutions responsible for CS cases worldwide and confirm that the molecular analysis of HRAS provides a reliable diagnostic test for Polish patients clinically diagnosed with Costello syndrome.
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Health Sciences Medicine and Dentistry Dermatology
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