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Article

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics - 1 Apr 2026

Sánchez Carmen María Dolores, Soler María José Sánchez, Del Carmen Martínez Romero María, Calvo Daniel Doval, Martínez María Juliana Ballesta

Abstract excerpt

Stickler syndrome (SS) is clinically and genetically heterogeneous. Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. It may also include midfacial hypoplasia, cleft palate, and skeletal manifestations. Currently, only 40 ARSS cases have been described, and just 4 are linked to pathogenic...

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Source

Identifiers

PMID: 41052910
DOI: 10.1111/cge.70087

Genes

LOXL3
ABR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.PMID 41052910Read ↗

Autosomal Recessive Stickler Syndrome.Semantic proximity Read ↗

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Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.Semantic proximity Read ↗

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