Associated Papers
CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.
Arany ES et al.
American Journal of Medical Genetics. Part A, 2025
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.
Rolland M et al.
Pediatric Dermatology, 2022
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