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Laron dwarfism; pituitary dwarfism 2; Laron-type pituitary dwarfism 1 (LTD1); Laron syndrome (LS)
Genetics:
- associated with defects in GHR
Clinical manifestations:
- most severe form of growth hormone insensitivity
- growth impairment
- dysmorphic facial features
- truncal obesity
Laboratory:
- levels of GHBP are low or undetectable
General
dwarfism (nanism)
Database Correlations
OMIM 262500
References
UniProt :accession P10912