hrp0098p2-195 | Growth and Syndromes | ESPE2024
Stoeva Iva
, Mihova Kalina
, Kamenarova Kunka
, Kostova Daniela
, Georgiev Martin
, Ianeva Natasha
, Kaneva Radka
Introduction: The first patient with Temple syndrome (TS, ORPHA 254516) was described in 1991. The genetic condition is rare (prevalence<1/1000 000, <100 described patients). An abnormal expression of genes in the imprinted 14q32.2 region has been revealed. The 14.32.2 region is characterized by three differentially methylated regions (DMRs) and a cluster of paternally and maternally expressed genes. Main clinical features are growth delay (pre-and postn...