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.

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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

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