Expanding the Phenotype and Genotype in Thauvin‐Robinet‐Faivre Syndrome: A New Patient with a Novel Variant and Additional Clinical Findings
American Journal of Medical Genetics Part A（2023）
Key words
CLCN4,FIBP,overgrowth,recurrent pulmonary infections,Thauvin-Robinet-Faivre syndrome,TLR5
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