Disease: Lower limb deficiency hypospadias
- A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies
- Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency
- Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias
- Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus
- Tissue-limited mosaicism for monosomy 13