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1.
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype.
Am J Med Genet A
; 194(5): e63515, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38135897
2.
Siblings with Gorlin-Goltz syndrome associated with cardiac tumors: a case report and review of literature.
Orphanet J Rare Dis
; 18(1): 178, 2023 07 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37408081
3.
Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia.
Biomedicines
; 12(1)2023 Dec 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38255170
4.
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Clin Epigenetics
; 14(1): 143, 2022 11 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36345041
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