Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene-Reference-Cited by-同舟云学术

Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene

Published:2018-11-18 Issue:2 Volume:95 Page:336-338
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Dardis Andrea¹^ORCID,Pianta Annalisa¹,Zampieri Stefania¹,Zanin Irene¹,Bertoli Marta²³,Cazzagon Monica⁴,Bregant Elisa⁵,Damante Giuseppe⁵⁶,Bembi Bruno¹,Ciana Giovanni¹

Affiliation:

1. Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital “Santa Maria della Misericordia” Udine; Udine Italy

2. Department of Medical Genetics; Ospedale San Pietro Fatebenefratelli; Rome Italy

3. International Centre for Life, Central Parkway; Institute of Genetic Medicine; Newcastle upon Tyne UK

4. Unitá per le disabilitá gravi in etá evolutiva; IRCCS E. Medea-La Nostra Famiglia; Udine Italy

5. Institute of Medical Genetics, Department of Laboratory Medicine, Academic Hospital “Santa Maria della Misericordia” Udine; Udine Italy

6. Dipartimento di area Medica; Università di Udine; Udine Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13464/fullpdf

Reference5 articles.

1. Specific acromesomelia with facial and renal anomalies: a new syndrome;Pfeiffer;Clin Dismorphol,1995

2. Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies and soft palate agenesis;Verloes;Am J Med Genet,1995

3. Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q 13;Isidor;Am J Hum Genet,2010

4. A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome;Kohmoto;Am J Med Genet A,2017

5. Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes;Di Gregorio;Clin Genet,2017

Cited by 2 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. Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?;Molecular Cytogenetics;2024-07-12

2. Disruption in SLCO5A1 gene by a balanced chromosomal translocation t(1;8)(p32.2;q13). Another evidence of the need for combined haploinsufficiency of genes SLCO5A1 and SULF1 genes as a cause of mesomelia-synostosis syndrome. Clinical and cytogenetic considerations.;2022-11-22