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LIG4-related disorder

MedGen UID:
893407
•Concept ID:
CN239380
•
Disease or Syndrome
Synonyms: LIG4-related condition; LIG4-Related Disorders

Recent clinical studies

Prognosis

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Nicolle R, Boutaud L, Loeuillet L, Talhi N, Grotto S, Bourgon N, Feresin A, Coussement A, Barrois M, Beaujard MP, Rambaud T, Razavi F, Attié-Bitach T
Eur J Hum Genet 2024 May;32(5):545-549. Epub 2024 Feb 13 doi: 10.1038/s41431-024-01558-2. PMID: 38351293Free PMC Article

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      Related medical variations

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