Clinical aspects of Fanconi anemia individuals with the same mutation ofFANCFidentified by next generation sequencing-Reference-Cited by-同舟云学术

Clinical aspects of Fanconi anemia individuals with the same mutation ofFANCFidentified by next generation sequencing

Published:2015-06-02 Issue:12 Volume:103 Page:1003-1010
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research Part A: Clinical and Molecular Teratology

Author:

Nicchia Elena¹,Benedicenti Francesco²,Rocco Daniela De³,Greco Chiara³,Bottega Roberta³,Inzana Francesca²,Faleschini Michela¹,Bonin Serena¹,Cappelli Enrico⁴,Mogni Massimo⁵,Stanzial Franco²,Svahn Johanna⁴,Dufour Carlo⁴,Savoia Anna¹³

Affiliation:

1. Department of Medical Sciences; University of Trieste; Trieste Italy

2. Genetic Counseling Service, Department of Pediatrics; Regional Hospital of Bolzano; Bolzano Italy

3. Institute for Maternal and Child Health - IRCCS Burlo Garofolo; Trieste Italy

4. Clinical and Experimental Hematology Unit; G. Gaslini Children's Hospital; Genoa Italy

5. Human Genetics Laboratory “E.O. Ospedali Galliera”; Genoa Italy

Funder

IRCCS Burlo Garofolo, the Italian Ministry of Health

Telethon Foundation

AIRFA (Italian Association for Fanconi Anemia Research)

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/bdra.23388/fullpdf

Reference23 articles.

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4. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia;Bogliolo;Am J Hum Genet,2013

5. PCR analysis in archival postmortem tissues;Bonin;Mol Pathol,2003

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1. Research progress of the Fanconi anemia pathway and premature ovarian insufficiency;Biology of Reproduction;2023-09-05

2. The First Case of Acute Myeloid Leukemia With Underlying Fanconi Anemia due to FANCF Variants in Korea;Annals of Laboratory Medicine;2022-10-25

3. A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report;BMC Medical Genetics;2019-07-09

4. Identification of mutations in patients with acquired pure red cell aplasia;Acta Biochimica et Biophysica Sinica;2018-05-15

5. Phenotypic variability in patients with Fanconi anemia and biallelicFANCFmutations;American Journal of Medical Genetics Part A;2016-10-07