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1.
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
Am J Med Genet A
; 182(4): 813-822, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31913574
2.
Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.
Cytogenet Genome Res
; 156(2): 65-70, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30286452
3.
Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites.
Pediatr Dev Pathol
; 20(6): 498-505, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28403691
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