Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

2023 in the European Journal of Human Genetics

“…Desroziers et al describe hypomorphic variants in SFTB in pulmonary fibrosis [29]. EFCAB7 variants were reported in a novel cause of polydactyly (Bilal et al [30]). Ronchi and colleagues described a neonatal phenotype of COX18 variants [31].…”