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Article

Contiguous ABCD1 DXS1357E deletion syndrome: report of an autopsy case.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Jun 2013

Iwasa Mitsuaki, Yamagata Takanori, Mizuguchi Masashi, Itoh Masayuki, Matsumoto Ayumi, Hironaka Mitsugu, Honda Ayako, Momoi Mariko Y, Shimozawa Nobuyuki

Abstract excerpt

Contiguous ABCD1 DXS1357E deletion syndrome (CADDS) is a contiguous deletion syndrome involving the ABCD1 and DXS1357E/BAP31 genes on Xq28. Although ABCD1 is responsible for X-linked adrenoleukodystrophy (X-ALD), its phenotype differs from that of CADDS, which manifests with many features of Zellweger syndrome (ZS), including severe growth and developmental retardation, liver dysfunction, cholestasis and early...

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Source

Identifiers

PMID: 22994209
DOI: 10.1111/j.1440-1789.2012.01348.x

Genes

ABCD1
PDZD4
PLXNB3
SRPK3
SSR4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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