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The prospect of novel orphan therapeutic protocol for TSC2/PKD1 contiguous gene syndrome: a case report.
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.