The role of behavioral phenotyping in establishing a diagnosis of pseudo-angelman syndrome

The role of behavioral phenotyping in establishing a diagnosis of pseudo-angelman syndrome

Background: Behavioral phenotypes are observable patterns of behavior present in certain genetic syndromes that have distinctive social, linguistic, cognitive, and motor profiles. These may play an important role as pointers toward certain genetic disorders. The recognition of aberrant behavior is i...

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Bibliographic Details
Main Authors: Veronica Arora, Aashita Takkar, Sameer Bhatia, Meena Lall, Praveen Kumar
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Indian Pediatrics Case Reports
Subjects:
behavioral phenotype
genetic disorder
happy demeanor
mbd5
microdeletion
pseudo-angelman syndrome
Online Access:http://www.ipcares.org/article.asp?issn=2772-5170;year=2022;volume=2;issue=2;spage=84;epage=87;aulast=Arora

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http://www.ipcares.org/article.asp?issn=2772-5170;year=2022;volume=2;issue=2;spage=84;epage=87;aulast=Arora

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