Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference16 articles.
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3. Davies W, Humby T, Kong W, Otter T, Burgoyne PS, Wilkinson LS: Converging pharmacological and genetic evidence indicates a role for steroid sulfatase in attention. Biol Psychiatry 66:360-367 (2009).
4. Esplin ED, Li B, Slavotinek A, Novelli A, Battaglia A, et al: Nine patients with Xp22.31 microduplication, cognitive deficits ,seizures, and talipes anomalies. Am J Med Genet A 164A:2097-2103 (2014).
5. Faletra F, D'Adamo AP, Santa Rocca M, Carrozzi M, Perrone MD, et al: Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 158A:461-464 (2012).
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