Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations-Reference-Cited by-同舟云学术

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

Published:2018-09-17 Issue:12 Volume:39 Page:1752-1763
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Casas-Alba Dídac¹²^ORCID,Martínez-Monseny Antonio²,Pino-Ramírez Rosa M.¹,Alsina Laia³,Castejón Esperanza⁴,Navarro-Vilarrubí Sergi⁵,Pérez-Dueñas Belén⁶⁷,Serrano Mercedes²⁶⁸,Palau Francesc²⁸⁹¹⁰,García-Alix Alfredo²⁸¹¹

Affiliation:

1. Department of Pediatrics; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

2. Department of Genetic and Molecular Medicine; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

3. Department of Pediatric Allergy and Clinical Immunology; Hospital Sant Joan de Déu; University of Barcelona; Institut de Recerca Sant Joan de Déu; Barcelona Spain

4. Department of Pediatric Gastroenterology; Hepatology and Nutrition; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

5. Department of Pediatric Palliative Care; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

6. Department of Pediatric Neurology; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

7. Department of Pediatric Neurology; Vall d'Hebron Hospital and Research Institute; Barcelona Spain

8. CIBER de Enfermedades Raras (CIBERER-ISCIII); Madrid Spain

9. Laboratory of Neurogenetics and Molecular Medicine; Institut de Recerca Sant Joan de Déu; Barcelona Spain

10. Division of Pediatrics; University of Barcelona School of Medicine; Barcelona Spain

11. Department of Neonatology; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23638/fullpdf

Reference57 articles.

1. Identical twins with infantile systemic hyalinosis: Case study and review of literature;Aggarwal;Journal of Orthopaedic Case Reports,2016

2. Infantile systemic hyalinosis: A fatal disorder commonly diagnosed among Arabs;Al-Mayouf;Clinical and Experimental Rheumatology,2005

3. Infantile systemic hyalinosis: A case report with a novel mutation;Al Sinani;Oman Medical Journal,2013

4. Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene;Antaya;American Journal of Dermatopathology,2007

5. CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome;Bürgi;Nature Communications,2017

Cited by 39 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. Hyaline Fibromatosis Syndrome Diagnosed by Whole Genome Sequencing;Journal of Pediatric Health Care;2024-09

2. Oral and maxillofacial manifestations in young patients with Hyalin fibromatosis syndrome: A case series;Oral and Maxillofacial Surgery Cases;2024-09

3. Lumps and bumps in a young child: Hyaline fibromatosis syndrome;Karnataka Paediatric Journal;2024-06-24

4. Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome;The Turkish Journal of Pediatrics;2024-05-23

5. Prognostic factors for wellbeing in patients with hyaline fibromatosis syndrome;Pediatrics International;2024-01