Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.

Abstract excerpt

Costello syndrome (CS; OMIM 218040) is caused by heterozygous germline mutations of HRAS (OMIM 190020).We report on a patient with sporadic CS presenting with characteristic craniofacial dysmorphism, congenital cardiopulmonary disorders, intellectual impairment, and skin abnormalities manifesting as loose redundant skin of the hands and feet, acanthosis nigricans, multiple naevi and hypotrichosis. Using Sanger...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to Costello Syndrome
• Share to Gene Duplication