Expanding the Genetic and Clinical Spectrum of GZF1 -Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome.

Abstract excerpt

GZF1-related phenotype (GZF1RP) has been referred to by different names, including autosomal recessive Larsen syndrome (LRS) and "joint laxity, short stature, and myopia". Only ten patients from five families have been reported, all of whom carry biallelic variants of GZF1. They share short stature and joint dislocation with LRS; however, they present with severe ocular manifestations, suggesting that GZF1RP may...

Topics

• Humans
• Female
• Phenotype
• Osteochondrodysplasias
• Laron Syndrome