A 10 Mb duplication in chromosome band 5q31.3–5q33.1...

European Journal of Medical Genetics 2011 Vol. 54; Iss. 3

A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

Stanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, Nicolas Lévy, Laurence Lamant, Benoît Arveiler, Caroline Rooryck, Cathie Prouheze, Adeline Vigouroux, Dominique Chauveau, Patrick Cal
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Volume:
54
Year:
2011
Language:
english
Pages:
314
DOI:
10.1016/j.ejmg.2011.01.005
File:
PDF, 528 KB
english, 2011
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