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Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome.

Pubmed ID: 
25480037
Year: 
2014
Month: 
DEC
Volume: 
95
Issue: 
6
Citation: 
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S. Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome. American Journal of Human Genetics 95 (6) : 763 - 70(2014) PubMed