Article
Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype.
American journal of medical genetics. Part A - 1 Oct 2006
Santiago Giselda, Abramides Dagma Venturini Marques, De-Vitto Luciana Paula Maximino, Ribeiro Lucilene Arilho, Meira Silvio Garcia, Richieri-Costa Antonio
Abstract excerpt
Here, we evaluate linguistic skills and neuropsychological performance in a sample of patients with SHH mutations and a holoprosencephaly (HPE)-like phenotype, a minor form of classic HPE. Our findings suggest that patients with SHH mutations and a HPE-like phenotype have normal cognitive ratios and significant language impairment. Imaging evaluation by magnetic resonance imaging (MRI) was normal in three...
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