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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

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

Fig. 1

a Pedigree of family; F1.1–affected male individual; F1.2–unaffected male carrier of 17p13.3 triplication encompassing BHLHA9 gene. Results of clinical assessment of individual F1.1. was presented in b–e. b, c Upper extremities X-ray imaging showed hypoplasia of fingers. d, e Lower extremities X-ray imaging revealed bilateral tibial aplasia and hypoplasia of feet bones. An analysis was made at age of 6 months and 2 years, respectively

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172