Article
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
Clinical genetics - 1 Feb 2015
van de Kamp J M, Errami A, Howidi M, Anselm I, Winter S, Phalin-Roque J, Osaka H, van Dooren S J M, Mancini G M, Steinberg S J, Salomons G S
Abstract excerpt
The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy. Recently, loss-of-function mutations in BCAP31 were reported in association with severe developmental delay, deafness and dystonia. We characterized the break points in eight patients with deletions of SLC6A8, BCAP31 and/or ABCD1 and studied the...
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