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-Reference-Cited by-同舟云学术

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

Published:2021-01-08 Issue:4 Volume:185 Page:1222-1227
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Smith Rebecca B.¹²^ORCID,Solem Emily P.³,Metz Emma C.⁴,Wheeler Ferrin C.¹⁴,Phillips John A.¹³,Yenamandra Ashwini¹⁴

Affiliation:

1. Department of Pathology, Microbiology, and Immunology Vanderbilt University Medical Center Nashville Tennessee USA

2. Genetics Associates Inc. Nashville Tennessee USA

3. Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA

4. Vanderbilt University School of Medicine Nashville Tennessee USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62071

Reference28 articles.

1. AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation

2. Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17;Fountain J. W.;American Journal of Human Genetics,1989

3. Chromosome Abnormalities and Genetic Counseling

4. Neurofibromatosis Type 1 and tumorigenesis: molecular mechanisms and therapeutic implications

5. Increased risk of breast cancer in neurofibromatosis type 1: current insights

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1. Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1;European Journal of Human Genetics;2022-07-26

2. Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases;Journal of Clinical Investigation;2022-04-01