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PMID: 12843325 Published · ppublish English Case Reports Letter Research Support, Non-U.S. Gov't

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.

Journal of medical genetics ·Vol. 40 ·No. 7 ·2003-07-00 ·页码 520-5

Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, Windpassinger C, Wagner K, Kroisel PM, Kehrer-Sawatzki H

Abstract

暂无摘要

MeSH 主题词

Adult Animals Cell Line Child Family Health Fatal Outcome Female Gene Deletion Haplotypes/genetics Humans In Situ Hybridization, Fluorescence Mitosis/genetics Mosaicism/genetics Neoplasm Proteins Neurofibromatosis 1/genetics,pathology Pedigree Recombination, Genetic Transcription Factors/genetics

化学物质

Neoplasm Proteins SUZ12 protein, human Transcription Factors

作者与单位

共 9 位作者，点击展开单位 / ORCID

Petek E

Jenne D E

Smolle J

Binder B

Lasinger W

Windpassinger C

Wagner K

Kroisel P M

Kehrer-Sawatzki H

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

1468-6244

DOI

10.1136/jmg.40.7.520

Published

2003-07-00

页码

520-5

Language

English

Country/Region

England

NLM ID

2985087R

External Links

PubMed source DOI: 10.1136/jmg.40.7.520 View journal details

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Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.

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