panhypopituitarism X-linked
panhypopituitarism X-linked
An extremely rare X-llinked condition (OMIM:312000) characterised by panhypopituitarism, absent infundibulum, anterior pituitary hypoplasia and ectopic posterior pituitary.Molecular pathology
Caused by defects of SOX3, which encodes a transcription factor that regulates embryonic development and determines cell fate.