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POMGNT1-related disorder

MedGen UID:
893563
•Concept ID:
CN239299
•
Disease or Syndrome
Synonyms: POMGNT1-related condition; POMGNT1-Related Disorders

Recent clinical studies

Diagnosis

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
Mohammadi P, Daneshmand MA, Mahdieh N, Ashrafi MR, Heidari M, Garshasbi M
Acta Neurol Belg 2021 Feb;121(1):143-151. Epub 2020 Nov 11 doi: 10.1007/s13760-020-01527-8. PMID: 33175337

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