Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features-Reference-Cited by-同舟云学术

Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features

Published:1993-02-15 Issue:4 Volume:45 Page:488-500
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Langer Leonard O.,Wolfson Barbara J.,Scott Charles I.,Reid Cheryl S.,Schidlow Daniel V.,Millar Edward A.,Borns Patricia F.,Lubicky John P.,Carpenter Becky L. M.

Publisher

Wiley

Subject

Genetics(clinical)

Reference8 articles.

1. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology

2. International Classification of Osteochondrodysplasias (1991 International Nomenclature Meeting, Germany)

3. International classification of osteochondrodysplasias

4. Metatropic Dysplasia and its Variants (Analysis of 14 Cases)

Cited by 26 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. Discoidin domain receptors; an ancient family of collagen receptors has major roles in bone development, regeneration and metabolism;Frontiers in Dental Medicine;2023-05-11

2. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients;European Journal of Medical Genetics;2023-04

3. The collagen receptor, discoidin domain receptor 2, functions in Gli1-positive skeletal progenitors and chondrocytes to control bone development;Bone Research;2022-02-09

4. Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features;Molecular Syndromology;2021-09-28

5. Identification of a novel homozygous mutation in the DDR2 gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing;IRAN J BASIC MED SCI;2021