Work

Identification of the Third Patient With PAICS Deficiency Harbouring the p.( Lys53Arg ) Recurrent Variant, Extending the Phenotype Diversity

Year: 2024

Type: article

Study design: Case Report

Source: Clinical Genetics

DOI: 10.1111/cge.14681

Authors: Simon Boussion, Madeleine Aumar, Antoine Hutt, Damien Fron, Pierre Fayoux, Jamal Ghoumid, Frédéric Gottrand, Thomas Smol

Institutions: Université de Lille, Centre Hospitalier Universitaire de Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, Inserm, Institute for Translational Research in Inflammation, Evaluation des technologies de santé et des pratiques médicales

Language: English

Topic: Biochemical and Molecular Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4405851500

FWCI: 0.231

Cites: 14

Cited by: 2

Related to: 10