Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants-Reference-Cited by-同舟云学术

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Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants

Published:2021-01-17 Issue:3 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Capkova Zuzana¹²^ORCID,Capkova Pavlina¹²,Srovnal Josef¹³,Adamova Katerina¹²,Prochazka Martin¹²,Hajduch Marian³

Affiliation:

1. Department of Medical Genetics University Hospital Olomouc Olomouc Czech Republic

2. Department of Medical Genetics Faculty of Medicine and Dentistry Palacký University Olomouc Olomouc Czech Republic

3. Institute of Molecular and Translational Medicine Faculty of Medicine and Dentistry Palacký University Olomouc Olomouc Czech Republic

Funder

Technology Agency of the Czech Republic

European Regional Development Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1592

Reference38 articles.

1. Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment

2. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

3. Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome

4. The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

5. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

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3. A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations;Chromosome Research;2024-03-19

4. A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations;2023-12-13

5. Analysis of Faecal Microbiota and Small ncRNAs in Autism: Detection of miRNAs and piRNAs with Possible Implications in Host–Gut Microbiota Cross-Talk;Nutrients;2022-03-23

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