Novel Homozygous DLX5 and WNT10B Variants Expand the Genetic and Phenotypic Spectrum of Autosomal Recessive Split-Hand/Foot Malformations (SHFM1D and SHFM6)
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Background: Split-hand/foot malformations (SHFM) have both dominant and recessive inheritance patterns, but the autosomal recessive forms (SHFM1D and SHFM6) are much rarer and often present with more severe and asymmetrical limb ... ...
