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Journals
Balkan Journal of Medical Genetics
Volume 16 (2013): Issue 2 (December 2013)
Open Access
DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
A. Sireteanu
A. Sireteanu
,
M. Voloşciuc
M. Voloşciuc
,
M. Grămescu
M. Grămescu
,
Ev. Gorduza
Ev. Gorduza
,
C. Vulpoi
C. Vulpoi
,
I. Frunză
I. Frunză
and
C. Rusu
C. Rusu
| Mar 11, 2014
Balkan Journal of Medical Genetics
Volume 16 (2013): Issue 2 (December 2013)
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Published Online:
Mar 11, 2014
Page range:
67 - 72
DOI:
https://doi.org/10.2478/bjmg-2013-0034
Keywords
18p - syndrome
,
Holoprosencephaly (HPE)
,
Single nucleotide polymorphism (SNP) array
,
16p11.2 duplication
This content is open access.
A. Sireteanu
Department of Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, Iaşi, Romania
M. Voloşciuc
Medical Genetics Center, “Sf. Maria” Children’s Hospital, Iaşi, Romania
M. Grămescu
Department of Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, Iaşi, Romania
Ev. Gorduza
Department of Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, Iaşi, Romania
C. Vulpoi
Department of Endocrinology, ”Grigore T. Popa” University of Medicine and Pharmacy, Iaşi, Romania
I. Frunză
Department of Neurology, CF Hospital, Iaşi, Romania
C. Rusu
Department of Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, Iaşi, Romania