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Article

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.

Molecular genetics & genomic medicine - 1 Aug 2021

Cordisco Adalgisa, Pelo Elisabetta, Di Tommaso Mariarosaria, Biagiotti Roberto

Abstract excerpt

BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from defects of peroxisomal metabolism whose clinical phenotype is characterized by rhizomelia, calcified foci in periarticular cartilage, coronal lesions of vertebral bodies, cataracts and severe cognitive delay. Usually, survival does not exceed the first decade of life. Transmission is autosomal recessive and is related to...

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PMID: 34110102
DOI: 10.1002/mgg3.1733
PMCID: PMC8404227

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