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372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment
Author(s):
Giuseppina Marseglia
,
Maria Scordo
,
Chiara Pescucci
,
Genni Nannetti
,
Elisabetta Biagini
,
Valeria Scandurra
,
Francesca Gerundino
,
Alberto Magi
,
Matteo Benelli
,
Francesca Torricelli
Publication date:
2012-03-01
Journal:
European Journal of Medical Genetics
Publisher:
Elsevier BV
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European Journal of Medical Case Reports (EJMCR)
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Journal
DOI::
10.1016/j.ejmg.2012.01.005
PubMed ID::
22333924
License:
https://www.elsevier.com/tdm/userlicense/1.0/
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