X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Musio A; Selicorni A; Focarelli ML; Gervasini C; Milani D; Russo S; Vezzoni P; Larizza L; Nature Genetics, 2006, vol. 38, issue 5, p 528, ISSN 10614036. ISBN 10614036.
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