Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS-Reference-Cited by-同舟云学术

Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS

Published:2020-08-07 Issue:10 Volume:182 Page:2391-2398
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Masoudi Maryam¹,Bereshneh Ali Hosseini²³^ORCID,Rasoulinezhad Maryam¹,Ashrafi Mahmoud Reza¹,Garshasbi Masoud⁴,Tavasoli Ali Reza¹^ORCID

Affiliation:

1. Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran

2. Prenatal Diagnosis and Genetic Research Center Dastgheib Hospital, Shiraz University of Medical Sciences Shiraz Iran

3. Department of Medical Genetics, School of Medicine Shiraz University of Medical Sciences Shiraz Iran

4. Faculty of Medical Sciences, Department of Medical Genetics Tarbiat Modares University Tehran Iran

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61776

Reference11 articles.

1. Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

2. An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome

3. DcpS, a general modulator of cap-binding protein-dependent processes?

4. Small Molecules in Development for the Treatment of Spinal Muscular Atrophy

5. Regulation of mRNA decapping

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