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Items: 2

Select item 57622691.

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families

Danielle C. Kimble, Francis P. Lach, Siobhan Q. Gregg, Frank X. Donovan, Elizabeth K. Flynn, Aparna Kamat, Alice Young, Meghana Vemulapalli, James W. Thomas, James C. Mullikin, Arleen D. Auerbach, Agata Smogorzewska, Settara C. Chandrasekharappa

Hum Mutat. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Hum Mutat. 2018 Feb; 39(2): 237–254. Published online 2017 Nov 22. doi: 10.1002/humu.23366

PMCID:: PMC5762269

Abstract Article PDF–2.3M

Select item 44384582.

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing

Ponnumony John Solomon, Priya Margaret, Ramya Rajendran, Revathy Ramalingam, Godfred A Menezes, Alph S Shirley, Seung Jun Lee, Moon-Woo Seong, Sung Sup Park, Dodam Seol, Soo Hyun Seo

Ital J Pediatr. 2015; 41: 38. Published online 2015 May 8. doi: 10.1186/s13052-015-0142-6