The germline p53 activation syndrome: A new patient further refines the clinical phenotype-Reference-Cited by-同舟云学术

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The germline p53 activation syndrome: A new patient further refines the clinical phenotype

Published:2022-04 Issue:7 Volume:188 Page:2204-2208
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Kumar Runjun D.¹^ORCID,Tosur Mustafa²³^ORCID,Lalani Seema R.¹³^ORCID,Mahoney Donald H.³⁴,Bertuch Alison A.¹³⁴^ORCID

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

2. Department of Pediatrics, Division of Diabetes and Endocrinology Baylor College of Medicine Houston Texas USA

3. Texas Children's Hospital Houston Texas USA

4. Department of Pediatrics, Division of Hematology/Oncology Baylor College of Medicine Houston Texas USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62749

Reference15 articles.

1. Flow cytometry and FISH to measure the average length of telomeres (flow FISH)

2. The role of p53 in developmental syndromes

3. Nijmegen breakage syndrome (NBS)

4. How to get away with nonsense: Mechanisms and consequences of escape from nonsense‐mediated RNA decay

5. De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond–Blackfan anemia

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