Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, identification of a mutation in TGFB1, and review-Reference-Cited by-同舟云学术

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, identification of a mutation in TGFB1, and review

Published:2004 Issue:3 Volume:129A Page:235-247
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wallace Stephanie E.,Lachman Ralph S.,Mekikian Pertchoui B.,Bui Kathy K.,Wilcox William R.

Publisher

Wiley

Subject

Genetics(clinical)

Reference157 articles.

1. PROGRESSIVE DIAPHYSEAL DYSPLASIA: CASE REPORT AND LITERATURE REVIEW

2. Engelmann's Disease

3. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

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