Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness-Reference-Cited by-同舟云学术

Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness

Published:2020-10 Issue:10 Volume:30 Page:833-838
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Brisset Marion,Metay Corinne,Carlier Robert-Yves,Badosa Carmen,Marques Caterina,Schalkwijk Joost,vanVlijmen-Willems Ivonne,Jimenez-Mallebrera Cecilia,Keren Boris,Jobic Valérie,Laforêt Pascal,Malfatti Edoardo

Funder

Instituto de Salud Carlos III

European Regional Development Fund

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference19 articles.

1. Embryonic expression of tenascin-X suggests a role in limb, muscle, and heart development;Burch;Dev Dyn,1995

2. Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome;Miller;Horm Res Paediatr,2018

3. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency;Schalkwijk;N Engl J Med,2001

4. Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases;Hendriks;Clin Dysmorphol,2012

5. The 2017 international classification of the Ehlers-Danlos syndromes;Malfait;Am J Med Genet C Semin Med Genet,2017

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