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Escobar Syndrome: A Case Report of a Neonate with a Homozygous CHRNG Pathogenic Variant (c.459dup, p.Val154Serfs*24) Diagnosed Prenatally via Whole Exome Sequencing
March 31, 2025
/
20
,
Case Report
,
Diagnosis
,
Genetic
,
Neurodevelopment
,
Neuromuscular
,
Neuroprotection
,
Testing
Hua Wang M.D., Ph.D., FACMG
nt-25-03-199-204
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