6533b851fe1ef96bd12a92dc

RESEARCH PRODUCT

SHOX HAPLOINSUFFICIENCY INTRA FAMILIAL PHENOTIPIC VARIABILITY AND THE IMPACT ON FINAL HEIGHT: REPORT OF A PEDIGREE

Maria Cristina MaggioFrancesca CardellaFlavia MulèGiovanni Corsello

subject

Settore MED/38 - Pediatria Generale E SpecialisticaSHOX haploinsufficiency short stature

description

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.

yearjournalcountryeditionlanguage
2019-01-01
http://hdl.handle.net/10447/390039