Condition: Laron syndrome type 2


rs121908501 in STAT5B gene and Laron syndrome type 2 PMID 22419735 2012 A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.

PMID 13679528 2003 Growth hormone insensitivity associated with a STAT5b mutation.

PMID 15827093 2005 Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.

PMID 16787985 2006 Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.