Aortic coarctation and McArdle disease in histiocytosis-lymphadenopathy plus syndrome: expanding the SLC29A3 spectrum
Abstract Histiocytosis-lymphadenopathy plus syndrome (HLPS) is a rare inherited disorder caused by SLC29A3 variants. We report 2 Pakistani brothers with HLPS and markedly different clinical features despite identical genotypes. The 15-year-old had severe growth failure, facial dysmorphism, insulin-dependent diabetes, h...