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Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis… Click to show full abstract
Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of ABCC6 revealed a novel homozygous c.4041G > A variant located in the last position of exon 28 that compromises the splicing donor site, resulting in a shorter messenger RNA. The deletion impairs the nucleotide-binding fold region, which is crucial for ABCC6 function.
Keywords:
pseudoxanthoma;
pseudoxanthoma elasticum;
novel abcc6;
abcc6 variant
Journal Title: Human Genome Variation
Year Published: 2019
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Journal Title: Human Genome Variation
Year Published: 2019
Link to full text (if available)
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recommendations!