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1.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Genet Med
; 21(12): 2734-2743, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31263216
2.
Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.
Mol Syndromol
; 10(5): 255-263, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-32021596
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