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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

Fig. 1

(A) Pedigree of the family where SLC24A4 variant c.1192C > T segregates in an autosomal recessive fashion. The asterisks show tested individuals. The red arrow indicates the index patient, who was subjected toexome sequencing. T shows the disease-allele while C is the wild-type presentation (B) The representation of amelogenesis imperfecta in the patients. (i), (ii), and (iii) are the clinical features of patient IV-4 showing yellow-brown discoloration, (iv) Orthopantomogram (OPG) of the patient IV-4 showing thin layer of enamel, high radio-density and distinction from the dentin, while (v) and (vi) are the clinical photographs of the patient IV-5 showing creamy type of discoloration, attrition and dental caries

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BMC Medical Genetics

ISSN: 1471-2350

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