Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications-Reference-Cited by-同舟云学术

Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications

Published:2020-12-21 Issue:2 Volume:42 Page:142-149
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Castiglioni Claudia¹,Feillet François²³,Barnerias Christine⁴,Wiedemann Arnaud²³,Muchart Jordi⁵,Cortes Fanny⁶,Hernando‐Davalillo Cristina⁷,Montero Raquel⁸⁹,Dupré Thierry¹⁰¹¹,Bruneel Arnaud¹⁰¹²,Seta Nathalie¹⁰,Vuillaumier‐Barrot Sandrine¹⁰,Serrano Mercedes⁹¹³^ORCID

Affiliation:

1. Department of Pediatric Neurology, Rare Disease Center Clínica Las Condes Santiago Chile

2. Department of Pediatrics, Reference Center for Inborn Errors of Metabolism University Hospital of Nancy Nancy France

3. INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy University of Lorraine Nancy France

4. Pediatric Neurology Department, Center de Référence Maladies Neuromusculaires (GNMH) Necker University Hospital, AP‐HP Paris France

5. Department of Radiology, Hospital Sant Joan de Déu Institut de Recerca Sant Joan de Déu Barcelona Spain

6. Pediatric Department. Rare Diseases Center Clínica Las Condes Santiago Chile

7. Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases Hospital Sant Joan de Déu Barcelona Spain

8. Clinical Biochemistry Department Institut de Recerca Hospital Sant Joan de Déu Barcelona Barcelona Spain

9. Unit‐703 Center for Biomedical Research on Rare Diseases (CIBER‐ER) Instituto de Salud Carlos III Madrid Spain

10. Service de Biochimie Métabolique et Cellulaire Hôpital Bichat‐Claude Bernard, AP‐HP Paris France

11. INSERM UMR_S 1149, Faculté de Médecine Xavier Bichat Université de Paris Paris France

12. INSERM UMR1193, “Mécanismes cellulaires et moléculaires de l'adaptation au stress et cancérogenèse” Université Paris‐Sud Châtenay‐Malabry France

13. Pediatric Neurology Department, Hospital Sant Joan de Déu Institut de Recerca Sant Joan de Déu Barcelona Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24151

Reference25 articles.

1. Roentgenographic Measurement of Skull Size in Children

2. Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

3. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

4. Structural basis for coupling protein transport and N-glycosylation at the mammalian endoplasmic reticulum

5. Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation

Cited by 9 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 SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis;Frontiers in Genetics;2024-07-17

2. SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient;Molecular Genetics and Metabolism;2024-07

3. MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation;Journal of Thrombosis and Haemostasis;2023-11

4. Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder;Genes;2023-08-05

5. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07