An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations inKAT6B-Reference-Cited by-同舟云学术

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations inKAT6B

Published:2014-01-23 Issue:4 Volume:164 Page:950-957
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Yu Hung-Chun¹,Geiger Elizabeth A.¹,Medne Livija²,Zackai Elaine H.²,Shaikh Tamim H.¹³⁴

Affiliation:

1. Department of Pediatrics; University of Colorado School of Medicine; Aurora Colorado

2. Division of Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Section of Genetics; University of Colorado School of Medicine; Aurora Colorado

4. Colorado Intellectual and Developmental Disabilities Research Center (IDDRC); University of Colorado School of Medicine; Aurora Colorado

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36379/fullpdf

Reference45 articles.

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3. FOXL2 mutations and genomic rearrangements in BPES;Beysen;Hum Mutat,2009

4. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome;Campeau;Am J Hum Genet,2012

5. Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein;Champagne;J Biol Chem,1999

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