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. 2014 Dec 3;111(50):17953–17958. doi: 10.1073/pnas.1417438111

Fig. 4.

Fig. 4.

Family pedigrees of probands with pathogenic CHD7 mutations. Pedigrees #11, #12, #18, #28, #33, #35, #38, and #44 harbored CHD7 mutations alone, and pedigrees #24 and #25 harbored CHD7 mutations oligogenic with FGFR1 and GNRHR genes, respectively. Among familial cases, pedigree #24 and pedigree #25 display incomplete penetrance for CHD7 mutations and pedigree #18 displays variable expressivity of GnRH deficiency/anosmia phenotypes for the CHD7 mutation. Probands are identified by arrows. “+” indicates WT allele.