Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases. [electronic resource]
Producer: 20181025Description: 799-807 p. digitalISSN:- 2191-0251
- Adolescent
- Adrenal Insufficiency -- genetics
- Amino Acid Sequence
- Base Sequence
- Biomarkers -- metabolism
- Child
- Child, Preschool
- Esophageal Achalasia -- genetics
- Female
- Follow-Up Studies
- Genotype
- Humans
- Male
- Mutation
- Nerve Tissue Proteins -- genetics
- Nuclear Pore Complex Proteins -- genetics
- Prognosis
- Retrospective Studies
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Publication Type: Case Reports; Journal Article
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