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A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseSevere Intellectual DisabilityMolecular BiologyAbnormal Respiratory RhythmMolecular GeneticsMedical GeneticsDisease Gene IdentificationMedicineGenetic BasisClinical Genetics