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Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.
Am J Med Genet A
; 185(4): 1222-1227, 2021 04.
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en Inglés
| MEDLINE | ID: mdl-33415784
2.
Factors associated with parental knowledge of neurofibromatosis type 1 (NF1): Parental affected status and genetic counseling.
J Genet Couns
; 29(6): 1151-1158, 2020 12.
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en Inglés
| MEDLINE | ID: mdl-32196829
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