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Journal article

Homozygous SALL1 mutation causes a novel multiple congenital anomaly - Mental retardation syndrome

Abstract:: Objective: To delineate a novel autosomal recessive multiple congenital anomaly-mental retardation (MCA-MR) syndrome in 2 female siblings of a consanguineous pedigree and to identify the disease-causing mutation. Study design: Both siblings were clinically characterized and homozygosity mapping and sequencing of candidate genes were applied. The contribution of nonsense-mediated messenger RNA (mRNA) decay to the expression of mutant mRNA in fibroblasts of a healthy carrier and a control was s...
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APA Style

Vodopiutz, J., Zoller, H., Fenwick, A., Arnhold, R., Schmid, M., Prayer, D., Müller, T., Repa, A., Pollak, A., Aufricht, C., Wilkie, A., & Janecke, A. (2013). Homozygous SALL1 mutation causes a novel multiple congenital anomaly - Mental retardation syndrome. Journal of Pediatrics, 162(3), 612–617.

MLA Style

Vodopiutz, J., et al. “Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly - Mental Retardation Syndrome.” Journal of Pediatrics, vol. 162, no. 3, 2013, pp. 612–17.

Chicago Style

Vodopiutz, J, H Zoller, A Fenwick, R Arnhold, M Schmid, D Prayer, T Müller, et al. 2013. “Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly - Mental Retardation Syndrome.” Journal of Pediatrics 162 (3): 612–17.
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Publisher copy:: 10.1016/j.jpeds.2012.08.042

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+ Zoller, H More by this author

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Bibliographic Details

Journal:: Journal of Pediatrics
Volume:: 162
Issue:: 3
Pages:: 612-617
Publication date:: 2013-03-01
DOI:: 10.1016/j.jpeds.2012.08.042
EISSN:: 1097-6833
ISSN:: 0022-3476

Item Description

Language:: English
Pubs id:: pubs:389463
UUID:: uuid:66408dbf-54cc-4a91-95eb-6796d8644e87
Local pid:: pubs:389463
Source identifiers:: 389463
Deposit date:: 2013-11-17

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Copyright date:: 2013

Licence:: Terms and Conditions of Use for Oxford University Research Archive

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