An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity-Reference-Cited by-同舟云学术

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

Author:

Bögershausen Nina¹,Altunoglu Umut²,Beleggia Filippo³,Yigit Gökhan¹,Kayserili Hülya⁴,Nürnberg Peter⁵,Li Yun¹,Altmüller Janine⁵⁶,Wollnik Bernd¹

Affiliation:

1. Institute of Human Genetics; University Medical Center Goettingen; Goettingen Germany

2. Istanbul Medical Faculty, Department of Medical Genetics; Istanbul University; Istanbul Turkey

3. Institute of Human Genetics; University of Duesseldorf; Duesseldorf Germany

4. Department of Medical Genetics; Koç University School of Medicine; Istanbul Turkey

5. Cologne Center for Genomics; University of Cologne; Cologne Germany

6. Institute of Human Genetics; University of Cologne; Cologne Germany

Funder

German Federal Ministry of Education and Research (BMBF)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference47 articles.

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