Clinical and molecular characteristics of imerslund‐gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene-Reference-Cited by-同舟云学术

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Clinical and molecular characteristics of imerslund‐gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene

Published:2021-01-25 Issue:5 Volume:43 Page:1009-1015
ISSN:1751-5521
Container-title:International Journal of Laboratory Hematology
language:en
Short-container-title:Int J Lab Hematol

Author:

Elshinawy Mohamed¹²^ORCID,Gao Harry H.³,Al‐Nabhani Dana M.⁴,Al‐Thihli Khalid A.⁵

Affiliation:

1. Department of Child Health Pediatric Hematology/Oncology Sultan Qaboos University Hospital Muscat Oman

2. Department of Pediatrics Pediatric Hematology/Oncology Faculty of Medicine University of Alexandria Alexandria Egypt

3. Fulgent Genetics Temple City CA USA

4. Department of Nephrology Sultan Qaboos University Hospital Muscat Oman

5. Genetic and developmental Medicine Department Sultan Qaboos University Hospital Muscat Oman

Publisher

Wiley

Subject

Biochemistry, medical,Clinical Biochemistry,Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.13473

Reference42 articles.

1. Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria)

2. Idiopathic Chronic Megaloblastic Anemia in Children

3. Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities

4. Consanguinity and Dysmorphology in Arabs

5. Genomic landscape of the Greater Middle East

Cited by 4 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. Imerslund-Gräsbeck Syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report;2023-11-14

2. Megaloblastic anemia and benign proteinuria: Clues to the diagnosis of Imerslund–Gräsbeck syndrome;Pediatric Blood & Cancer;2023-10-19

3. Síndrome de Imerslund-Gränsbeck: caso clínico.;Revista colombiana de Gastroenterología;2023-09-27

4. Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases;Orphanet Journal of Rare Diseases;2023-09-14

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