Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient-Reference-Cited by-同舟云学术

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Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient

Published:2022-11-23 Issue:1 Volume:32 Page:25-28
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Demir Engin,Öncül Ümmühan,Havan Merve,Tuna Kirsaçlioğlu Ceyda,Eminoğlu Fatma Tuba,Kendirli Tanil,Kuloğlu Zarife,Kansu Aydan

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Scyl1 regulates Golgi morphology.;Burman;PLoS One,2010

2. Scyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde traffic.;Burman;J Biol Chem,2008

3. Scyl1 facilitates nuclear tRNA export in mammalian cells by acting at the nuclear pore complex.;Chafe;Mol Biol Cell,2010

4. Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: three case reports and a literature review.;Chavany;Arch Pediatr,2020

5. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome–an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.;Giunta;Am J Hum Genet,2008

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