Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Ella F. Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Melis Kose, Rebecca D. Ganetzky, Mehran Beiraghi Toosi, Paria Najarzadeh Torbati, Reza Shervin Badv, Ivan Shelihan, Hui Yang, Houda Zghal Elloumi, Sukyeong Lee, Yalda Jamshidi, Alan M. Pittman, Henry Houlden, Erika Ignatius, Shamima Rahman, Reza MaroofianWan Hee Yoon, Christopher J. Carrol

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkfinska
Artikelnummer100332
TidskriftGenetics In medicine
Volym25
Nummer2
Antal sidor16
ISSN1098-3600
DOI
StatusPublicerad - feb. 2023
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 1184 Genetik, utvecklingsbiologi, fysiologi

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