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. Author manuscript; available in PMC: 2020 Sep 1.
Published in final edited form as: Blood Rev. 2019 Jul 16;37:100589. doi: 10.1016/j.blre.2019.100589

Fig. 1.

Fig. 1.

Study Flow Chart. We identified 1101 reports of individual patients in which the complementation group or gene related to FA was reported from 1982 through September 2017. Phenotype information was provided for 561 patients (51%); 443 (79%) of these had a physical abnormality and 118 (21%) did not. The type of pathogenic variant (null or hypomorphic) could be classified in 380 patients (68%) with phenotype information; 237 (62%) of these had a null genotype and 143 (38%) a hypomorphic genotype. For the rest of the patients, the authors did not mention molecular details enabling variant classification.