Work

CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant

Year: 2024

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.63962

Authors: Eszter Sara Arany, David Zocche, Jemima E. Mellerio, Muriel Holder‐Espinasse, Jan Cobben

Institutions: St Mark's Hospital, Imperial College London, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, St Thomas' Hospital

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4405116198

FWCI: 0.48

Cites: 19

Cited by: 2

Related to: 10