Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report
Abstract Background The Raynaud-Claes type of X-linked syndromic mental retardation (MRXSRC) is a very rare condition, by intellectual disability ranged from borderline to profound, impaired language development, brain abnormalities, facial dysmorphisms and seizures. MRXSRC is caused by variants in...
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BMC,
2021-09-01T00:00:00Z.
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