Singh, Kanika

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases. [electronic resource] - Journal of pediatric endocrinology & metabolism : JPEM Jul 2018 - 799-807 p. digital

Publication Type: Case Reports; Journal Article

2191-0251

10.1515/jpem-2018-0023 doi


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