A case of Riley Ruvalcaba syndrome with a novel &ITPTEN&IT mutation accompanied by diffuse testicular microlithiasis and precocious puberty

ÖZSU CAVGA E., Sen A., Ceylaner S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.31, no.1, pp.95-99, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.1515/jpem-2017-0250
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.95-99
  • Keywords: penile pigmentation, PTEN mutation, testicular microlithiasis, COWDEN-SYNDROME, PTEN MUTATIONS, PHOSPHATASE, HAMARTOMAS
  • Ankara University Affiliated: No

Abstract

Background: Bannayan Riley Ruvalcaba syndrome (BRRS) is exceedingly rare, with only about 50 reported cases to date.