MASP1 ‐related 3MC syndrome in a patient from Turkey-Reference-Cited by-同舟云学术

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MASP1 ‐related 3MC syndrome in a patient from Turkey

Published:2021-03-25 Issue:7 Volume:185 Page:2267-2270
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Durmaz Ceren Damla¹²^ORCID,Altıner Şule³⁴^ORCID

Affiliation:

1. Department of Medical Genetics University of Health Sciences, Gazi Yaşargil Training and Research Hospital Diyarbakır Turkey

2. Department of Medical Genetics, Faculty of Medicine Hacettepe University Ankara Turkey

3. Department of Medical Genetics University of Health Sciences, Kanuni Training and Research Hospital Trabzon Turkey

4. Department of Medical Genetics, Faculty of Medicine Ankara University Ankara Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62191

Reference21 articles.

1. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

2. Essential Role of Complement Mannose-Binding Lectin-Associated Serine Proteases-1/3 in the Murine Collagen Antibody-Induced Model of Inflammatory Arthritis

3. Novel mutation in MASP1 gene in a new family with 3MC syndrome

4. 3MC sendromu: Bir olgu sunumu;Çakmakli S.;Archives of Clinical and Experimental Medicine,2019

5. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

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1. Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age;Journal of Clinical Medicine;2023-10-13

2. ‘A child with Malpuech–Michels–Mingarelli–Carnevale syndrome and ADHD and major depressive disorder’;Psychiatric Genetics;2023-06-16

3. Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels;Genes;2023-02-28

4. 3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum;Clinical Dysmorphology;2022-11-28

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