Variable expressivity and incomplete penetrance in a large family with non ‐classical Diamond‐Blackfan anemia associated with ribosomal protein L11 splicing variant

This report summarizes the prevalence of non‐anemia findings in DBA7 and describes a non‐classical familial presentation of DBA7 more associated with thumb anomalies than with anemia.

Source: American Journal of Medical Genetics Part A - July 25, 2017 Category: Genetics & Stem Cells Authors: Colleen M. Carlston, Zeinab A. Afify, Janice C. Palumbos, Heidi Bagley, Carlos Barbagelata, Whitney L. Wooderchak ‐Donahue, Rong Mao, John C. Carey Tags: ORIGINAL ARTICLE Source Type: research