A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations-Reference-Cited by-同舟云学术

A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations

Published:2010 Issue: Volume: Page:n/a-n/a
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kosho Tomoki,Miyake Noriko,Hatamochi Atsushi,Takahashi Jun,Kato Hiroyuki,Miyahara Teruyoshi,Igawa Yasuhiko,Yasui Hiroshi,Ishida Tadao,Ono Kurahito,Kosuda Takashi,Inoue Akihiko,Kohyama Mohei,Hattori Tadashi,Ohashi Hirofumi,Nishimura Gen,Kawamura Rie,Wakui Keiko,Fukushima Yoshimitsu,Matsumoto Naomichi

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33498/fullpdf

Reference21 articles.

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3. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type;Faiyaz-Ul-Haque;Am J Med Genet Part A,2004

4. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome-an autosomal recessive entity caused by mutations in the zinc transporter gene SLC39A13;Giunta;Am J Hum Genet,2008

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