Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome-Reference-Cited by-同舟云学术

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome

Published:2016-09-29 Issue:2 Volume:91 Page:339-343
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Radvanszky J.¹²³,Hyblova M.²³,Durovcikova D.⁴,Hikkelova M.⁵,Fiedler E.⁶,Kadasi L.¹²,Turna J.²,Minarik G.²³,Szemes T.²³

Affiliation:

1. Institute for Clinical and Translational Research; Biomedical Research Centre, Slovak Academy of Sciences; Bratislava Slovakia

2. Department of Molecular Biology, Faculty of Natural Sciences; Comenius University; Bratislava Slovakia

3. Geneton s.r.o.; Bratislava Slovakia

4. Department of Medical Genetics; Slovak Medical University; Bratislava Slovakia

5. Laboratory of Medical Genetics; Alphamedical s.r.o.; Bratislava Slovakia

6. Institut für Klinische Genetik, Leitung Microarray-Diagnostik, Klinikum Stuttgart/Olgahospital; Stuttgart Germany

Funder

ERDF

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12840/fullpdf

Reference15 articles.

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4. A syndrome of hypoplastic patellae, mental retardation, skeletal and genitourinary anomalies with normal chromosomes;Goldblatt;Dysmorph Clin Genet,1988

5. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome;Clayton-Smith;Am J Hum Genet,2011

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