14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly

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Published in:American Journal of Medical Genetics Part A 2012, Vol.158A (6), p.1427-1433
Main Authors: Piccione, Maria, Serra, Gregorio, Consiglio, Valeria, Di Fiore, Antonella, Cavani, Simona, Grasso, Marina, Malacarne, Michela, Pierluigi, Mauro, Viaggi, Chiara, Corsello, Giovanni
Format: Report
Language:English
Subjects:
array-CGH
chromosome 14q deletion
holoprosencephaly
ID/MCA deletion syndrome
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container_end_page 1433
container_issue 6
container_start_page 1427
container_title American Journal of Medical Genetics Part A
container_volume 158A
creator Piccione, Maria
Serra, Gregorio
Consiglio, Valeria
Di Fiore, Antonella
Cavani, Simona
Grasso, Marina
Malacarne, Michela
Pierluigi, Mauro
Viaggi, Chiara
Corsello, Giovanni
description
doi_str_mv 10.1002/ajmg.a.35334
format report
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source Wiley
subjects array-CGH
chromosome 14q deletion
holoprosencephaly
ID/MCA deletion syndrome
title 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
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