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Journals
Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 1 (June 2018)
Open Access
Floating-Harbor syndrome: Presentation of the first Romanian patient with a
SRCAP
mutation and review of the literature
M Budisteanu
M Budisteanu
,
N Bögershausen
N Bögershausen
,
SM Papuc
SM Papuc
,
S Moosa
S Moosa
,
M Thoenes
M Thoenes
,
D Riga
D Riga
,
A Arghir
A Arghir
and
B Wollnik
B Wollnik
| Oct 29, 2018
Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 1 (June 2018)
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Article Category:
Case Report
Published Online:
Oct 29, 2018
Page range:
83 - 86
DOI:
https://doi.org/10.2478/bjmg-2018-0005
Keywords
Clinical management
,
Floating-Harbor syndrome (FHS)
,
Snf2-related CREBBP activator protein () gene
© 2018 Budisteanu M, Bögershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
M Budisteanu
Professor Dr. Alex Obregia Clinical Hospital of Psychiatry
Bucharest, Romania
Victor Babes National Institute of Pathology
Bucharest, Romania
N Bögershausen
Institute of Human Genetics University Medical Center Göttingen
Göttingen, Germany
SM Papuc
Victor Babes National Institute of Pathology
Bucharest, Romania
S Moosa
Institute of Human Genetics University Medical Center Göttingen
Göttingen, Germany
M Thoenes
Institute of Human Genetics University of Köln
Köln, Germany
D Riga
Professor Dr. Alex Obregia Clinical Hospital of Psychiatry
Bucharest, Romania
A Arghir
Victor Babes National Institute of Pathology
Bucharest, Romania
B Wollnik
Institute of Human Genetics University Medical Center Göttingen
Göttingen, Germany