• A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction
• Achalasia and microcephaly
• Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition
• Achalasia-microcephaly syndrome: a further case report
• Another case of achalasia-microcephaly syndrome
• Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities
• Familial achalasia, microcephaly, and mental retardation. Case report and review of literature
• Familial adrenal insufficiency, achalasia, alacrima, peripheral neuropathy, microcephaly, normal plasma very long chain fatty acids, and normal muscle mitochondrial respiratory chain enzymes
• Triple A syndrome--clinical aspects and molecular genetics