A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

Gabriele Gillessen-Kaesbach*, Stephanie Demuth, Hannelore Thiele, Ursel Theile, Christina Lich, Bernhard Horsthemke

*Korrespondierende/r Autor/-in für diese Arbeit
70 Zitate (Scopus)

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Biochemistry, Genetics and Molecular Biology