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 mutations in the PEX7, GNPAT or AGPS.
A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata / Cordisco, Adalgisa; Pelo, Elisabetta; Di Tommaso, Mariarosaria; Biagiotti, Roberto. - In: MOLECULAR GENETICS & GENOMIC MEDICINE. - ISSN 2324-9269. - ELETTRONICO. - (2021), pp. 0-0. [10.1002/mgg3.1733]
A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata
Cordisco, Adalgisa;Pelo, Elisabetta;Di Tommaso, Mariarosaria;Biagiotti, Roberto
2021
Abstract
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 mutations in the PEX7, GNPAT or AGPS.
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