X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing

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Date
2022-04
Author
McDermott, H
Garikapati, V
Baptista, Julia cc
Gowda, H
Naik, S
Subject
Abnormalities, Multiple
 
Blepharophimosis
 
Exome
 
Humans
 
Intellectual Disability
 
Mediator Complex
 
Mutation
 
Exome Sequencing
 

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URI
http://hdl.handle.net/10026.1/19254
DOI
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Publisher
Lippincott, Williams & Wilkins
Place of Publication
England
Journal
Clinical Dysmorphology
Volume
31
Issue
2
Pagination
101-105
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