Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay
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DOI: 10.1111/cge.13920
Abstract: Calpainopathies constitute a heterogeneous group of disorders resulting from deficiencies in calpains, calcium‐specific proteases that modulate substrates by limited proteolysis. Clinical manifestations depend on tissue‐specific expression of the defective calpain and substrate specificity. CAPN15, encoding… read more here.
Keywords: developmental delay; congenital malformations; deletion minimal; capn15 ... See more keywords