Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes-Reference-Cited by-同舟云学术

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

Published:2021-06-04 Issue:9 Volume:185 Page:2719-2738
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Pirozzi Filomena¹^ORCID,Lee Benson²,Horsley Nicole¹,Burkardt Deepika D.³^ORCID,Dobyns William B.⁴^ORCID,Graham John M.⁵^ORCID,Dentici Maria L.⁶⁷^ORCID,Cesario Claudia⁸,Schallner Jens⁹,Porrmann Joseph¹⁰,Di Donato Nataliya¹⁰^ORCID,Sanchez‐Lara Pedro A.⁵^ORCID,Mirzaa Ghayda M.¹¹¹¹²¹³^ORCID

Affiliation:

1. Center for Integrative Brain Research Seattle Children's Research Institute Seattle Washington USA

2. Division of Medical Genetics, Department of Medicine Veterans Affairs Greater Los Angeles Healthcare System Los Angeles California USA

3. National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

4. Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA

5. Medical Genetics Institute Cedars‐Sinai Medical Center, David Geffen School of Medicine at UCLA Los Angeles California USA

6. Medical Genetics Unit, Academic Department of Pediatrics Bambino Gesù Children's Hospital, IRCSS Rome Italy

7. Genetics and Rare Diseases Research Division Bambino Gesù Children's Hospital, IRCSS Rome Italy

8. Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

9. Department of Neuropediatrics School of Medicine, Carl Gustav Carus, TU Dresden Dresden Germany

10. Institute for Clinical Genetics University Hospital, TU Dresden Dresden Germany

11. Division of Medical Genetics, Department of Pediatrics University of Washington Seattle Washington USA

12. Brotman‐Baty Institute for Precision Medicine Seattle Washington USA

13. Institute for Stem Cell and Regenerative Medicine University of Washington Seattle Washington USA

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62362

Reference118 articles.

1. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

2. A role forTENM1mutations in congenital general anosmia

3. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

4. A global reference for human genetic variation

5. Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: Expansion of phenotype

Cited by 16 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. A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly–Polymicrogyria–Polydactyly–Hydrocephalus Syndrome;DNA and Cell Biology;2024-07-01

2. Application of angiogenesis-related genes associated with immune infiltration in the molecular typing and diagnosis of acute myocardial infarction;Aging;2024-06-14

3. Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly;Frontiers in Neuroscience;2024-03-12

4. Experimental models of human cortical malformations: from mammals to 'acortical' zebrafish;Neuroscience & Biobehavioral Reviews;2023-12

5. GABA regulates the proliferation and apoptosis of head and neck squamous cell carcinoma cells by promoting the expression of CCND2 and BCL2L1;Life Sciences;2023-12