triple-A syndrome

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Summary

Literature (1)

Literature for DOID 0050602: triple-A syndrome

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome., Smits DJ,Dekker J,Douben H,Schot R,Magee H,Bakhtiari S,Koehler K,Huebner A,Schuelke M,Darvish H,Vosoogh S,Tafakhori A,Jameie M,Taghiabadi E,Wilson Y,Shah M,van Slegtenhorst MA,Medici-van den Herik EG,van Ham TJ,Kruer MC,Mancini GMS, HGG Adv. July 10, 2024; 5(4):2666-2477.

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome., Smits DJ,Dekker J,Douben H,Schot R,Magee H,Bakhtiari S,Koehler K,Huebner A,Schuelke M,Darvish H,Vosoogh S,Tafakhori A,Jameie M,Taghiabadi E,Wilson Y,Shah M,van Slegtenhorst MA,Medici-van den Herik EG,van Ham TJ,Kruer MC,Mancini GMS, HGG Adv. July 10, 2024; 5(4):2666-2477.