Severe neonatal spondylometaphyseal dysplasia in two siblings-Reference-Cited by-同舟云学术

Severe neonatal spondylometaphyseal dysplasia in two siblings

Published:2009-10 Issue:10 Volume:149A Page:2166-2172
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Czarny-Ratajczak Malwina,Chrzanowska Krystyna,Bieganski Tadeusz,Sulko Jerzy,Baranska Dobromila,Kocyla-Karczmarewicz Beata,Kuszel Lukasz,Jakubowski Lucjusz,Niedzielski Kryspin,Kozlowski Kazimierz

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. Spondyloepimetaphyseal dysplasia Strudwick type;Anderson;Am J Med Genet,1982

2. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications;Bargal;Am J Hum Genet,2009

3. A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation;Bastepe;J Clin Endocrinol Metab,2004

4. Jansen type of spondylometaphyseal dysplasia;Campbell;Skeletal Radiol,2000

5. Identification and characterization of the human type II collagen gene (COL2A1);Cheah;Proc Natl Acad Sci,1985

Cited by 6 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. Genetic Abnormalities of the Crystalline Lens;Ophthalmic Genetic Diseases;2019

2. Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X;Cell Stress and Chaperones;2016-08-15

3. Spondylometaphyseal Dysplasia With Developmental Cataract: First Report of the Association in Two Sibling Pairs;Journal of Pediatric Ophthalmology & Strabismus;2015-03

4. A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization;American Journal of Medical Genetics Part A;2013-08

5. A new form or a variant of SMD type A4;Journal of Applied Genetics;2012-04-24