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Paper Details

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
2
2021
17q11, NF1, NF1 DNA coding regions, NF1 gene, NF1 locus, Neurofibromatosis type 1, autosomal dominant disorder, human, human genes, metaphase cells, neurofibromatosis type I, patients, tumors
Author NameAffiliation
John A PhillipsVanderbilt University Medical Center
John A PhillipsVanderbilt University Medical Center
John A PhillipsVanderbilt University Medical Center
John A PhillipsVanderbilt University Medical Center
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