Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly-Reference-Cited by-同舟云学术

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly

Published:2021-07-16 Issue:8 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Kaymakcalan Hande¹^ORCID,Kaya İlyas²,Cevher Binici Nagihan³,Nikerel Emrah⁴,Özbaran Burcu⁵,Görkem Aksoy Mehmet⁵,Erbilgin Seda⁶^ORCID,Özyurt Gonca⁷,Jahan Noor⁵,Çelik Didem⁵,Yararbaş Kanay⁸,Yalçınkaya Leyla⁹,Köse Sezen⁵,Durak Sibel³,Ercan‐Sencicek Adife Gulhan¹⁰¹¹¹²

Affiliation:

1. Pediatric Genetics Unit Department of Pediatrics Demiroglu Bilim University Istanbul Turkey

2. Department of Child and Adolescent Psychiatry Istanbul University Istanbul Faculty of Medicine Istanbul Turkey

3. Department of Child and Adolescent Psychiatry Dr Behcet Uz Child Disease and Surgery Training and Research Hospital Istanbul Turkey

4. Department of Bioinformatics Yeditepe University Istanbul Turkey

5. Department of Child and Adolescent Psychiatry Ege University Faculty of Medicine Izmir Turkey

6. Department of Child and Adolescent Psychiatry Prof. Dr. Cemil Tascioglu City Hospital Istanbul Turkey

7. Department of Child and Adolescent Psychiatry Izmir Katip Celebi University Faculty of Medicine Izmir Turkey

8. Department of Medical Genetics Demiroglu Bilim University Istanbul Turkey

9. Department of Molecular Biology and Genetics Bilkent University Faculty of Science Ankara Turkey

10. Masonic Medical Research Institute Utica New York USA

11. Yale University School of Medicine New Haven Connecticut USA

12. Department of NeurosurgeryProgram on Neurogenetics New Haven Connecticut USA

Funder

PTEN Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1739

Reference43 articles.

1. Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome

2. Cognitive characteristics of PTEN hamartoma tumor syndromes

3. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

4. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

5. Mutation screening of thePTEN gene in patients with autism spectrum disorders and macrocephaly

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