Die geistige Retardierung mit Sprachstörungen und möglichen autistischen Merkmalen ist ein autosomal dominantes Syndrom, welches durch Mutationen im FOXP1-Gen ausgelöst wird.
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Carr CW et al. (2010) Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. |
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Hamdan FF et al. (2010) De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. |
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Le Fevre AK et al. (2013) FOXP1 mutations cause intellectual disability and a recognizable phenotype. |
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Srivastava S et al. (2014) Clinical whole exome sequencing in child neurology practice. |
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Sollis E et al. (2016) Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. |
6. |
Horn D et al. (2010) Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. |
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OMIM.ORG article Omim 613670 |
8. |
Orphanet article Orphanet ID 391372 |