Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review-Reference-Cited by-同舟云学术

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Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

Published:2020-11-12 Issue:1 Volume:9 Page:314-321
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Arghir Aurora¹^ORCID,Papuc Sorina Mihaela¹,Tutulan‐Cunita Andreea‐Cristina¹,Erbescu Alina¹,Loddo Sara²,Genovese Silvia²,Ciocca Laura²,Goldoni Marina³,Piscopo Carmelo⁴,Bernardini Laura³^ORCID,Novelli Antonio²,Budisteanu Magdalena¹⁵⁶

Affiliation:

1. Victor Babes National Institute of Pathology Bucharest Romania

2. Bambino Gesù Children's Hospital IRCCS Rome Italy

3. IRCCS Casa Sollievo della Sofferenza Foundation San Giovanni Rotondo Italy

4. Antonio Cardarelli Hospital Naples Italy

5. Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry Bucharest Romania

6. Titu Maiorescu University Bucharest Romania

Funder

Ministerul Cercetării şi Inovării

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3523

Reference20 articles.

1. Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer

2. Genomic profile of copy number variants on the short arm of human chromosome 8

3. Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion

4. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

5. A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2

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1. Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype;Journal of Endocrinological Investigation;2021-07-13

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