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  Indian J Med Microbiol
 

Figure 1: (a-e) Clinical manifestations of the patient, demonstrating hair loss, finger and toe malformation and facial deformities (f) Sequence analysis of TRPS1 showing the heterozygous mutation 2396_2397 insG

Figure 1: (a-e) Clinical manifestations of the patient, demonstrating hair loss, finger and toe malformation and facial deformities (f) Sequence analysis of TRPS1 showing the heterozygous mutation 2396_2397 insG