Microdeletion 12p12.1 involving SRY-related HMG-box 5 gene with developmental delay and autistic behavior: A rare case report

Microdeletion 12p12.1 involving SRY-related HMG-box 5 gene with developmental delay and autistic behavior: A rare case report

The estimated prevalence of intellectual disability (ID) is 10.37/1000 population. One of the major causes of ID is a chromosomal abnormality. SRY-related HMG-box 5 (SOX5) gene encodes a member of the SOX family of transcription factors, which may act as a transcriptional regulator involved in the r...

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Bibliographic Details
Main Authors: Manisha Goyal, Ashok Gupta, Rahul Gupta, Mohammed Faruq, Divya Shrivastava
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Saudi Journal for Health Sciences
Subjects:
12p12.1 microdeletion
array-comparative genomic hybridization
developmental delay
microcephaly
Online Access:http://www.saudijhealthsci.org/article.asp?issn=2278-0521;year=2023;volume=12;issue=2;spage=157;epage=160;aulast=Goyal

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http://www.saudijhealthsci.org/article.asp?issn=2278-0521;year=2023;volume=12;issue=2;spage=157;epage=160;aulast=Goyal

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