Article
A mutation screen in patients with Kabuki syndrome.
Human genetics - 1 Dec 2011
Li Yun, Bögershausen Nina, Alanay Yasemin, Simsek Kiper Pelin Ozlem, Plume Nadine, Keupp Katharina, Pohl Esther, Pawlik Barbara, Rachwalski Martin, Milz Esther, Thoenes Michaela, Albrecht Beate, Prott Eva-Christina, Lehmkühler Margret, Demuth Stephanie, Utine Gülen Eda, Boduroglu Koray, Frankenbusch Katja, Borck Guntram, Gillessen-Kaesbach Gabriele, Yigit Gökhan, Wieczorek Dagmar, Wollnik Bernd
Abstract excerpt
Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34...
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