Journal of Pediatric Genetics

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Referenz

Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M.
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Eur J Med Genet 2008;
51 (02) 113-123

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