Publication | Open Access

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

Transcriptional RegulationEngineeringGenetic DisorderMedicineGeneticsLow-frequency Promoter DeletionsGene CharacterizationMolecular GeneticsRare Loss-of-function MutationsDisease Gene IdentificationSystems BiologyMolecular DiagnosticsGene ExpressionCompound Heterozygosity