Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome

We report the case of a child from Central Brazil with global developmental delay (GDD), syndromic features, and absence of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, with a rearrangement at Xq28 harboring the DKC1 gene. GTC-banding revealed a male karyotype (46,...

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Bibliografische gegevens
Gepubliceerd in:Mol Syndromol
Hoofdauteurs: Gonçalves Ramos, Lélia L., Plaza Pinto, Irene, Deb, Rajib, Ribeiro, Cristiano L., Mírian da Cruz e Cunha, Damiana, Bernardes Minasi, Lysa, Cordeiro Silva, Antonio M.T., da Cruz, Aparecido D.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: S. Karger AG 2019
Onderwerpen:
Short Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6738202/
https://ncbi.nlm.nih.gov/pubmed/31602194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000500005
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