Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease.

Garcha, Jaspreet; Jain, Angita; Atwal, Herjot; Sevlam, Pavalan; Atwal, Paldeep S.

Afiliación

Garcha J; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States.
Jain A; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States.
Atwal H; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States.
Sevlam P; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States.
Atwal PS; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States.

J Pediatr Genet ; 9(2): 142-144, 2020 Jun.

Article en En | MEDLINE | ID: mdl-32341821