Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype-Reference-Cited by-同舟云学术

Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype

Published:2008-09-15 Issue:18 Volume:146A Page:2376-2384
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

van Roij Mirjam H.H.,Mizumoto Shuji,Yamada Shuhei,Morgan Tim,Tan-Sindhunata M.B.,Meijers-Heijboer H.,Verbeke J.I.L.M.,Markie David,Sugahara Kazuyuki,Robertson Stephen P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. American Journal of Medical Genetics 01487299 10968628 2004

2. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred;Ahmad;Am J Med Genet,1998

3. Chondroitinase-mediated degradation of rare 3-O-sulfated glucuronic acid in functional oversulfated chondroitin sulfate K and E;Fongmoon;J Biol Chem,2007

4. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping;Hastbacka;Cell,1994

5. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias;Hastbacka;Am J Hum Genet,1996

Cited by 53 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. A Novel Missense Variant in the <i>CHST3</i> Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations;Molecular Syndromology;2024-03-27

2. Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations;American Journal of Medical Genetics Part A;2023-10-24

3. Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments;Australian Journal of Chemistry;2023-05-31

5. A Chinese case of CHST3-related skeletal dysplasia and a systematic review;Endocrine;2023-02-02