Report of a patient with a constitutional missense mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis

Publisher: John Wiley & Sons Inc

E-ISSN: 1552-4833|167|12|3186-3191

ISSN: 1552-4825

Source: American Journal Of Medical Genetics Part A, Vol.167, Iss.12, 2015-12, pp. : 3186-3191

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Abstract