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Article

<i>ACAN</i> mutations as a cause of familial short stature

1 Jan 2017

Abstract excerpt

Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or...

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PMID: 28804204
DOI: 10.1297/cpe.26.119

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Related research

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Research trail→

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<i>ACAN</i> mutations as a cause of familial short staturePMID 28804204Read ↗

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.Semantic proximity Read ↗

Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone ageSemantic proximity Read ↗

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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.Semantic proximity Read ↗

Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.Semantic proximity Read ↗

Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the LiteratureSemantic proximity Read ↗

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Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management - Case Reports and Literature ReviewSemantic proximity Read ↗

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.Semantic proximity Read ↗

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