Work

Infantile arterial calcification caused by a novel genetic variant A case report and literature review

Year: 2024

Type: article

Abstract: Idiopathic Infantile Arterial Calcification (IIAC) is a rare autosomal recessive disorder primarily associated with variants in the ENPP1 gene that encodes ectonucleotide pyrophosphatase/phosphodiesterase 1. Most cases are diagnosed postnatally. Here, we report a case of prenatal diagnosis of IIAC caused by a novel variant in ENPP1.

Source: Open Journal of Clinical and Medical Case Reports

DOI: 10.52768/2379-1039/2308

Author: Hanin Mohammed Yaqoob Ahmad

Language: English

Topic: Dermatological and Skeletal Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4409601774

FWCI:

Cites: 19

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Related to: 10