scholarly journals A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage

Bone Reports ◽  
2020 ◽  
Vol 12 ◽  
pp. 100240
Author(s):  
Qiong Chen ◽  
Sheng-Nan Wu ◽  
Yong-Xing Chen ◽  
Selvaa Kumar C. ◽  
Lu Zhang ◽  
...  
Keyword(s):  
Metaphyseal Chondrodysplasia

Jansen's Metaphyseal Chondrodysplasia

2009 ◽  
pp. 1096-1097
Author(s):  
Iris Bartels ◽  
Frank Beier ◽  
Peter L. M. Jansen ◽  
Peter L. M. Jansen ◽  
Peter L. M. Jansen ◽  
...  
Keyword(s):  
Metaphyseal Chondrodysplasia

scholarly journals Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia

2018 ◽  
Vol 103 (7) ◽  
pp. 2660-2669 ◽  
Author(s):  
Hiroshi Saito ◽  
Hiroshi Noda ◽  
Philippe Gatault ◽  
Detlef Bockenhauer ◽  
Kah Yin Loke ◽  
...  
Keyword(s):  
Metaphyseal Chondrodysplasia

A new form of metaphyseal chondrodysplasia in two sibs: Surgical treatment of tracheobronchial malacia and scoliosis

1982 ◽  
Vol 11 (4) ◽  
pp. 415-424 ◽  
Author(s):  
I. I. Kaitila ◽  
P. Halttunen ◽  
O. Snellman ◽  
O. Takkunen ◽  
John M. Opitz
Keyword(s):  
Surgical Treatment ◽  
Metaphyseal Chondrodysplasia ◽  
New Form

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: Description of seven patients and review of the literature

1991 ◽  
Vol 41 (3) ◽  
pp. 371-380 ◽  
Author(s):  
Ineke Van Der Burgt ◽  
Asgeir Haraldsson ◽  
Jan C. Oosterwijk ◽  
Anthonie J. van Essen ◽  
Corry Weemaes ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
Metaphyseal Chondrodysplasia ◽  
Cartilage Hair Hypoplasia

A Case of Metaphyseal Chondrodysplasia

1980 ◽  
Vol 15 (4) ◽  
pp. 851
Author(s):  
Choon Ki Lee ◽  
Se Il Suk ◽  
Jang Suk Choi
Keyword(s):  
Metaphyseal Chondrodysplasia

scholarly journals A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

2016 ◽  
Vol 25 (3) ◽  
pp. 107-110 ◽  
Author(s):  
Shinji Higuchi ◽  
Masaki Takagi ◽  
Satoshi Shimomura ◽  
Gen Nishimura ◽  
Yukihiro Hasegawa
Keyword(s):  
Novel Mutation ◽  
Familial Case ◽  
Metaphyseal Chondrodysplasia

scholarly journals Severe hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia?

2020 ◽  
Vol 182 (4) ◽  
pp. 768-772
Author(s):  
Michael T. Gabbett ◽  
Cassandra J. Jeavons ◽  
Peter H. Gray
Keyword(s):  
Severe Hypertension ◽  
Metaphyseal Chondrodysplasia
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