Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome-Reference-Cited by-同舟云学术

Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome

Published:2001-02 Issue:2 Volume:59 Page:99-105
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Schmidt H,Rudolph G,Hergersberg M,Schneider K,Moradi S,Meitinger T

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2001.590206.x/fullpdf

Reference12 articles.

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3. The type II collagenopathies: a spectrum of chondrodysplasias;Spranger;Eur J Pediatr,1994

4. Stop codon in the procollagen II gene (COL2A1) in a family with Stickler syndrome (arthro-ophthalmopathy);Ahmad;Proc Nat Acad Sci,1991

5. Zur Abgrenzung der Dysostosis enchondralis von der Chondrodystrophie;Kniest;Z Kinderheilk,1952

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