3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum-Reference-Cited by-同舟云学术

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3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum

Published:2022-11-28 Issue:1 Volume:32 Page:7-13
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Ashton Chloe Jade,Perveen Rahat,Beaman Glenda,Crisponi Giangiorgio,González-Del Angel Ariadna,Garza-Mayén Gilda,Alcántara-Ortigoza Miguel Angel,O’Sullivan James,Clayton-Smith Jill

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

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

Reference22 articles.

1. Further expansion of the mutational spectrum of 3MC syndrome: a novel MASP1 pathogenic variant in a male patient.;Agaoglu;Mol. Syndromol,2021

2. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.;Atik;Orphanet J Rare Dis,2015

3. Novel mutation in MASP1 gene in a new family with 3MC syndrome.;Basdemirci;Clin Dysmorphol,2019

4. 3MC syndrome: a case report.;Çakmakh;Arch Clin Exp Med,2019

5. Two sibs with Malpuech syndrome.;Crisponi;Am J Med Genet,1999

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