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• W1993966010 abstract "The investigation of patients with congenital anomalies and/or intellectual disability with modern genetic methods allows the recognition of an increasing number of cases with these chromosomal rearrangements. Here, we present a mildly mentally retarded boy with mild facial dysmorphism, language development delay, mild sensorineural hearing loss due to a deletion of 1,14 Mb on chromosome 19p 13.2. The deletion was de novo and familial history negative for this disorder. To our knowledge this is the first description of a patient with symptoms mentioned above associated with a 19p13.2-p13.2 deletion." @default.
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• W1993966010 date "2014-07-01" @default.
• W1993966010 modified "2023-10-16" @default.
• W1993966010 title "A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: A case report and review of the literature" @default.
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• W1993966010 doi "https://doi.org/10.1016/j.ijporl.2014.03.031" @default.
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