Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome-Reference-Cited by-同舟云学术

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

Published:2011-11-03 Issue:12 Volume:155 Page:3095-3099
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lin Dar-Shong,Chang Jui-Hsing,Liu Hsuan-Liang,Wei Chin-Hung,Yeung Chun-Yan,Ho Che-Sheng,Shu Chyong-Hsin,Chiang Ming-Fu,Chuang Chih-Kuang,Huang Yu-Wen,Wu Tsu-Yen,Jian Yuan-Ren,Huang Zon-Darr,Lin Shuan-Pei

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34326/fullpdf

Reference18 articles.

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3. A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model;Claus;J Invest Dermatol,2008

4. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa;Dasouki;Am J Med Genet A,2007

5. Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome?;de Barsy;Helv Paediatr Acta,1968

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