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Article

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

American journal of human genetics - 2 Jun 2016

Chen Dong-Hui, Below Jennifer E, Shimamura Akiko, Keel Sioban B, Matsushita Mark, Wolff John, Sul Youngmee, Bonkowski Emily, Castella Maria, Taniguchi Toshiyasu, Nickerson Deborah, Papayannopoulou Thalia, Bird Thomas D, Raskind Wendy H

Abstract excerpt

Ataxia-pancytopenia (AP) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes associated with monosomy 7. Here, in the four-generation family UW-AP, linkage analysis revealed four regions that provided the maximal LOD scores possible, one of which was in a commonly microdeleted chromosome 7q region. Exome sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27259050
DOI: 10.1016/j.ajhg.2016.04.009
PMCID: PMC4908176

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.PMID 27259050Read ↗

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