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Article

A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome.

Medical molecular morphology - 1 Jun 2015

Tate Genshu, Tajiri Takuma, Kishimoto Koji, Mitsuya Toshiyuki

Abstract excerpt

Asplenia syndrome (Ivemark syndrome) is a complex disorder composed of asplenia, malpositioning of the visceral organs and congenital heart defects. To elucidate the underlying molecular mechanism of asplenia syndrome, we herein analyzed the fatal case of a male neonate who exhibited three lobes...

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Source

Identifiers

PMID: 24912412
DOI: 10.1007/s00795-014-0079-7

Genes

DNAH5
DNAH7
DNAI1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24912412-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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