COL2A1–related skeletal dysplasias with predominant metaphyseal involvement-Reference-Cited by-同舟云学术

COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

Published:2007-01-15 Issue:2 Volume:143A Page:161-167
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Walter Kerstin,Tansek Mojca,Tobias Edward S.,Ikegawa Shiro,Coucke Paul,Hyland James,Mortier Geert,Iwaya Tsutomu,Nishimura Gen,Superti-Furga Andrea,Unger Sheila

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

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2. 1973. Disproportionate short stature, diagnosis and management. W. B. Saunders Company. 589 p.

3. Type II collagenopathies: Are there additional family members?

4. The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

5. Phenotypic expressions of a Gly154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD)

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