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A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome

Tobias Schwerd, Andrea V. Khaled, Manfred Schürmann, Hannah Chen, Norman Händel, André Reis, Gabriele Gillessen-Kaesbach, Holm H. Uhlig, Rami Abou Jamra*

*Corresponding author for this work
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Biochemistry, Genetics and Molecular Biology