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, cilt.31, sa.1, ss.95-99, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1515/jpem-2017-0250
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.95-99
  • Anahtar Kelimeler: penile pigmentation, PTEN mutation, testicular microlithiasis, COWDEN-SYNDROME, PTEN MUTATIONS, PHOSPHATASE, HAMARTOMAS
  • Ankara Üniversitesi Adresli: Hayır

Özet

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