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

Am J Med Genet AMay 22, 2026 (epub)
Case ReportMedical GeneticsOphthalmology

Emiy Yokoyama-Rebollar, Camilo E Villarroel, Tania Barragán-Arévalo et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

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.

Source

PubMed · PMID 42170786

Published in Am J Med Genet A. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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