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Journal Article
Moosa, Shahida 
ORCID: 0000-0002-4463-3067, Boehrer-Rabel, Helena, Altmueller, Janine, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Nuernberg, Peter, Li, Yun, Yigit, Goekhan and Wollnik, Bernd
(2017).
Smith-Kingsmore Syndrome: A Third Family with the MTOR Mutation C.5395G > A p.(Glu1799Lys) and Evidence for Paternal Gonadal Mosaicism.
Am. J. Med. Genet. A, 173 (1).
S. 264 - 268.
HOBOKEN:
WILEY.
ISSN 1552-4833