Ontology highlight
ABSTRACT:
SUBMITTER: Grunert SC
PROVIDER: S-EPMC8146043 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Grünert Sarah C SC Matysiak Uta U Hodde Franka F Ruzaike Gunda G Lausch Ekkehart E Schumann Anke A van der Werf-Grohmann Natascha N Spiekerkoetter Ute U Schmidts Miriam M
Diagnostics (Basel, Switzerland) 20210422 5
Hypomethylation of <i>H19</i> and <i>IGF2</i> can cause Silver-Russell syndrome (SRS), a clinically and genetically heterogeneous condition characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, craniofacial abnormalities, body asymmetry, hypoglycemia and feeding difficulties. Isolated hypomethylation of <i>IGF2</i> has been reported in single cases of SRS as well. Here, we report on a 19-month-old patient who presented with two episodes of hypoglycemic s ...[more]