A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

<div>Electropherogram of the patient showing the site of nucleotide change. Black arrows indicate the position of nucleotide change (stop gain). (a) Wild type, (b) heterozygous carrier, (c) homozygous affected with a stop gain at position c.181C &gt; T, and (d) comparison of the amino acid sequences of human NECTIN4 protein with orthologs from other species, indicating conservation of the p. Q61 residue across all species.</div>

Genetics Research

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Figure 3

Figure 3: A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family 

Figure 3 | A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family 