Work

Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype

Year: 2026

Type: article

Source: Clinical Genetics

DOI: 10.1111/cge.70161

Authors: Fakhriya Al‐Azri, Maryam Al‐Rashdi, Fathiya Al‐Murshedi, Ghada A. Otaify, Tariq Al‐Jabry, Adila Al‐Kindi, Sobia Ahsan Halim, Ahmed Al‐Harrasi, Almundher Al‐Maawali

Institutions: Sultan Qaboos University, Sultan Qaboos University Hospital, University of Nizwa

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Sultan Qaboos University

Awards: G682938966, G7962602668

OpenAlex ID: W7136708052

FWCI:

Cites: 4

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