A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia-Reference-Cited by-同舟云学术

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia

Published:2012-12-13 Issue:1 Volume:161 Page:198-202
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Montgomery Nathan D.,Turcott Christie M.,Tepperberg James H.,McDonald Marie T.,Aylsworth Arthur S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11;Bartsch;Am J Hum Genet,1996

2. Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion;Bremond-Gignac;Eur J Hum Genet,2005

3. Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome;Chuang;Am J Med Genet A,2005

4. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4;Hall;Clin Genet,2001

5. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D;Honsho;Am J Hum Genet,1998

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