On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion-Reference-Cited by-同舟云学术

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On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion

Published:2017-06-07 Issue:8 Volume:173 Page:2219-2225
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Topa Alexandra¹²^ORCID,Samuelsson Lena²,Lovmar Lovisa²,Stenman Göran¹²,Kölby Lars³

Affiliation:

1. Department of Pathology and Genetics; University of Gothenburg, The Sahlgrenska Academy; Gothenburg Sweden

2. Department of Clinical Pathology and Genetics; Sahlgrenska University Hospital; Gothenburg Sweden

3. Department of Plastic Surgery; University of Gothenburg, The Sahlgrenska Academy; Gothenburg Sweden

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2;Alliman;Clinical Genetics,2010

2. Further delineation of Kabuki syndrome in 48 well-defined new individuals;Armstrong;American Journal of Medical Genetics Part A,2005

3. Recurrent 10q22-q23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities;Balciuniene;American Journal of Human Genetics,2007

4. Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia;Chen;American Journal of Human Genetics,2009

5. A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome;David;American Journal of Medical Genetics Part A,2004

Cited by 14 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. Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications;American Journal of Medical Genetics Part A;2023-10-10

2. Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing;American Journal of Medical Genetics Part A;2023-01-18

3. The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective Study;Genes;2022-12-14

4. Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects;Frontiers in Molecular Biosciences;2022-04-28

5. Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways;American Journal of Medical Genetics Part A;2022-01-25

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