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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

Figure 1

Clinical summary. A. Pedigrees of 27 Japanese families with duplications (families 1-22) and triplications (families 23-27) of a ~200 kb region involving BHLHA9. The duplications/triplications are associated with GWC, SHFLD, SHFM, or normal phenotype (carriers). N.E.: Not examined molecularly. B. Representative clinical findings. Each patient is indicated by a family-generation-individual style and corresponds to the patient/subject shown in Figure 1A and Additional file 5. The top panel: GWC with right bifid femur; the second panel: SHFLD with bilateral tibial deficiencies, the third panel: SHFM with polydactyly; and the bottom panel: SHFM.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172