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1.
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.
J Hum Genet
; 69(6): 283-285, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38374165
2.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Genet Med
; 25(2): 100332, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36520152
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