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. Author manuscript; available in PMC: 2018 Nov 22.
Published in final edited form as: Genet Med. 2018 Feb 22;20(10):1175–1185. doi: 10.1038/gim.2017.249

Figure 1.

Figure 1

Pedigrees of the 12 affected families showing 23 affected liveborn offspring, 21 of whom underwent molecular analysis with mutational data on the affected children and carrier parents. Clinically unaffected children shown not to have two mutant alleles are indicated with an asterisk (carrier status of minors thereby not disclosed).