Article
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.
American journal of medical genetics. Part A - 1 Oct 2017
Cappuccio Gerarda, Pinelli Michele, Torella Annalaura, Alagia Marianna, Auricchio Renata, Staiano Annamaria, Nigro Vincenzo, Brunetti-Pierri Nicola
Abstract excerpt
The gene DST encodes for the large protein BPAG1 involved in hemidesmosomes. Its alternative splicing gives rise to tissue-enriched isoforms in brain, muscle, and skin. The few patients described so far with bi-allelic mutations in the DST gene have either a skin phenotype of epidermolysis bullosa simplex or a neurological phenotype. Here, we report a 17-year-old female individual presenting with a more complex...
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