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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

Fig. 2

a Pedigree of Family 2 has two affected male individuals harboring 17p13.3 duplication encompassing the BHLHA9 gene—F2.1 & F2.2, and one unaffected female carrier—F2.3. F2.1 b, c presented with bilateral monodactyly of upper extremities and partial aplasia of the right lower extremity such as femur, tibia, foot aplasia. Note steatomastia. His left foot was hypoplastic. F2.2 d, e presented bilateral ectrodactyly of upper extremities, left feet ectrodactyly, and hypoplasia of the right foot

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