Broadening the phenotypic spectrum of Beta3GalT6 ‐associated phenotypes-Reference-Cited by-同舟云学术

Broadening the phenotypic spectrum of Beta3GalT6 ‐associated phenotypes

Published:2021-06-23 Issue:10 Volume:185 Page:3153-3160
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Leoni Chiara¹,Tedesco Marta¹²,Radio Francesca Clementina³^ORCID,Chillemi Giovanni⁴⁵,Leone Antonio²⁶,Bruselles Alessandro⁷,Ciolfi Andrea³,Stellacci Emilia⁷,Pantaleoni Francesca³,Butera Gianfranco⁸,Rigante Donato¹²,Onesimo Roberta¹^ORCID,Tartaglia Marco³^ORCID,Zampino Giuseppe¹²^ORCID

Affiliation:

1. Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy

2. Dipartimento di Scienze Della Vita e Sanità Pubblica Università Cattolica del Sacro Cuore Rome Italy

3. Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy

4. Dipartimento per la Innovazione Nei Sistemi Biologici, Agroalimentari e Forestali Università Della Tuscia Viterbo Italy

5. Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari Centro Nazionale Delle Ricerche Bari Italy

6. Dipartimento di Scienze Radiologiche ed Ematologiche Fondazione Policlinico Universitario A. Gemelli IRCSS Rome Italy

7. Department of Oncology and Molecular Medicine Istituto Superiore di Sanità Rome Italy

8. Department of Pediatric Cardiology, Cardiac Surgery and Heart Lung Transplantation Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62399

Reference37 articles.

1. A method and server for predicting damaging missense mutations

2. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

3. Cloning and Expression of a Proteoglycan UDP-Galactose:β-Xylose β1,4-Galactosyltransferase I

4. Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

5. Mendelian Gene Discovery: Fast and Furious with No End in Sight

Cited by 3 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. B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum;European Journal of Medical Genetics;2023-10

2. Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes;American Journal of Physiology-Cell Physiology;2022-12-01

3. Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations;Frontiers in Genetics;2022-06-06