All Stories

  1. Imprinting disorders in idiopathic short stature
  2. Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome
  3. Continuous hypomethylation of the KCNQ1OT1 :TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome
  4. Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia
  5. A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome
  6. Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis