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Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

ZUFFARDI, ORSETTA;
2007-01-01
2007
Molecular Biology & Genetics considers all aspects of basic and applied genetics, including molecular genetics, prokaryotic and eukaryotic gene expression, mechanisms of mutagenesis, structure, function and regulation of genetic material. Also included are resources concerned with clinical genetics, patterns of inheritance, genetic cause, and screening and treatment of disease. Resources dealing specifically with developmentally regulated gene expression, or with signal transduction pathways that modulate gene expression at the cellular level are excluded and are covered in the Cell and Developmental Biology category.
EUROPEAN JOURNAL OF MEDICAL GENETICS
sì
Sì, ma tipo non specificato
Inglese
Internazionale
STAMPA
50
301
308
sinrdome da geni contigui; cromosoma X; delezioni
11
info:eu-repo/semantics/article
262
Lonardo, F; Parenti, G; Luquetti, Dv; Annunziata, I; DELLA MONICA, M; Perone, L; DE GREGORI, M; Zuffardi, Orsetta; BRUNETTI PIERRI, N; Andria, G; Scar...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/119037
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