Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis
Author:
Publisher
Elsevier BV
Subject
Radiology, Nuclear Medicine and imaging
Reference7 articles.
1. Chondrodysplasia punctata: Another possible X-linked recessive case;Bennett;Am J Med Genet.,1992
2. Brachytelephalangic chondrodysplasia punctata: Possible X-linked recessive form;Maroteaux;Human Genetics,1989
3. Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: Report of two cases;Herman;Pediatric Radiology,2002
4. Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karytope;Zizka;Am J Med Genet,1998
5. An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature;Petit;Human Genetics,1990
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Chondrodysplasia punctata with severe airway stenosis;Indian Journal of Critical Care Medicine;2018
2. Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia;The Turkish Journal of Pediatrics;2017
3. Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.;Polish Journal of Radiology;2013
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