Smith RB, Solem EP, Metz EC, Wheeler FC, Phillips JA, Yenamandra A. 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. American J of Med Genetics Pt A. 2021 Jan 08;185(4):1222–7. doi: 10.1002/ajmg.a.62071.
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