Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication
Neurol Sci
.
2020 Dec;41(12):3751-3753.
doi: 10.1007/s10072-020-04510-6.
Epub 2020 Jun 11.
Authors
Giulia Pascolini
1
,
Emanuele Agolini
2
,
Nicole Fleischer
3
,
Rosella Pierantoni
4
,
Sara Loddo
2
,
Antonio Novelli
2
,
Laura Bernardini
5
,
Silvia Majore
6
,
Paola Grammatico
6
Affiliations
1
Medical Genetics Laboratory, Clinical Genetics Division, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Circonvallazione Gianicolense 87, 00152, Rome, Italy. giulia.pascolini@uniroma1.it.
2
Laboratory of Medical Genetics, Department of Laboratories, Bambino Gesù Children's Hospital, Rome, Italy.
3
FDNA Inc., Boston, MA, USA.
4
Child Neuropsychiatry Unit, ASL C-Local Health District, Viterbo, Italy.
5
Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, FG, Italy.
6
Medical Genetics Laboratory, Clinical Genetics Division, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Circonvallazione Gianicolense 87, 00152, Rome, Italy.
PMID:
32529320
DOI:
10.1007/s10072-020-04510-6
No abstract available
Publication types
Letter
MeSH terms
Child
Chromosome Duplication* / genetics
Developmental Disabilities* / genetics
Humans