mental retardation, X-linked with panhypopituitarism
mental retardation, X-linked with panhypopituitarism
An extremely rare condition (OMIM:300123) characterised by mental retardation, isolated growth hormone deficiency and infantile behaviour.Molecular pathology
Caused by defects of SOX3, which encodes a transcription factor that regulates embryonic development and determines cell fate.