Clinical and radiographic delineation of odontochondrodysplasia-Reference-Cited by-同舟云学术

Clinical and radiographic delineation of odontochondrodysplasia

Published:2008 Issue:6 Volume:146A Page:770-778
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Unger Sheila,Antoniazzi Franco,Brugnara Milena,Alanay Yasemin,Caglayan Ahmet,Lachlan Katherine,Ikegawa Shiro,Nishimura Gen,Zabel Bernhard,Spranger Jürgen,Superti-Furga Andrea

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

2. Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity

3. A form of metatropic dwarfism in two brothers

4. The weight of the fourth dimension for the diagnosis of genetic bone disease

5. Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta

Cited by 21 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. Hereditary dentin defects with systemic diseases;Oral Diseases;2023-04-24

2. Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield;Prenatal Diagnosis;2021-06-12

3. A novel mutation in the TRIP11 gene: Diagnostic approach from relatively common skeletal dysplasias to an extremely rare Odontochondrodysplasia;Journal of Clinical Research in Pediatric Endocrinology;2021-06-01

4. Novel deep intronic and frameshift mutations causing a TRIP11 ‐related disorder;American Journal of Medical Genetics Part A;2021-05-20

5. Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants;European Journal of Medical Genetics;2021-05