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Paper Details

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
Am J Med Genet A
0
2019
CLS, Coffin-Lowry syndrome, RPS6KA3, X-linked disorder, between, cDNA, craniofacial features, exon 4-10 amplicon, exons 4 through 10, exons five through nine, high, hypotonia, intellectual disability, mRNA, patients, short stature, skeletal deformities, tapering digits

Datasets

Release 1.2