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

Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G. Kant, Zornitza Stark, Valérie Cormier‐Daire, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Kirstin Hoff, Amit Kawalia,

The American Journal of Human Genetics · 2014 · 49 citations · 38 references

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