BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome

BACKGROUND: Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristics resembling the Kabuki actor's make-up, cleft or high-arched palate, bra...

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Detaylı Bibliyografya
Asıl Yazarlar: Kimberley, Kendra W, Morris, Colleen A, Hobart, Holly H
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2006
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1513556/
https://ncbi.nlm.nih.gov/pubmed/16709256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-7-46
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