Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss‐of‐function <i>ASCC1</i> gene mutation in two Bulgarian Roma patients-Reference-Cited by-同舟云学术

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Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss‐of‐function ASCC1 gene mutation in two Bulgarian Roma patients

Published:2022-03-26 Issue:1 Volume:102 Page:78-79
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Bradinova Irena¹^ORCID,Andonova Silvia¹,Vazharova Radoslava²,Tomova Stiliyana³,Balabanski Lubomir⁴,Savov Alexey¹

Affiliation:

1. Department of Obstetrics and Gynecology National Genetic Laboratory, Medical University Sofia Sofia Bulgaria

2. Faculty of Medicine, Department of Biology, Medical Genetics and Microbiology SU “St. Kl. Ohridski” Sofia Bulgaria

3. Department of Neonatology University Hospital MBAL Bourgas Burgas Bulgaria

4. Laboratory Genomica GARH Malinov Sofia Bulgaria

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14130

Reference5 articles.

1. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

2. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures

3. The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement

4. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

5. Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship

Cited by 2 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. ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase;Journal of Biological Chemistry;2024-06

2. Frequency of Epidermal Growth Factor Receptor Gene Variant in Roma Population;Genetic Testing and Molecular Biomarkers;2023-11-01

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