A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases-Reference-Cited by-同舟云学术

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A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases

Published:2019-03-21 Issue:7 Volume:66 Page:e27726
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Perisa Michael P.¹^ORCID,Rose Melissa J.²,Varga Elizabeth²,Kamboj Manmohan K.³,Spencer John D.⁴,Bajwa Rajinder P.S.²^ORCID

Affiliation:

1. Pediatric Residency ProgramNationwide Children's Hospital Columbus Ohio

2. Hematology/Oncology/Bone Marrow Transplant DivisionNationwide Children's Hospital Columbus Ohio

3. Department of EndocrinologyNationwide Children's Hospital Columbus Ohio

4. Center of Clinical and Translational ResearchDivision of NephrologyNationwide Children's Hospital Columbus Ohio

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.27726

Reference11 articles.

1. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

2. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

3. Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations

4. Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome

5. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prenatal Features of MIRAGE Syndrome—Case Report and Review of the Literature;Children;2024-03-05

2. Cortisol deficiency;Steroids in the Laboratory and Clinical Practice;2023

3. Pediatric Germline Predisposition to Myeloid Neoplasms;Current Hematologic Malignancy Reports;2022-09-19

4. Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome;Frontiers in Endocrinology;2022-08-18

5. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes;Nature Medicine;2021-10

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