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Characterisation of CASPR2 deficiency disorder-a syndrome involving autism,epilepsy and language impairment
CNTNAP2 Epilepsy Intellectual disability Language regression Autism
2016/5/3
Background: Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTN...