The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position...

Por Radhakrishna, U, Bornholdt, D, Scott, H S, Patel, U C, Rossier, C, Engel, H, Bottani, A, Chandal, D, Blouin, J L, Solanki, J V, Grzeschik, K H, Antonarakis, S E
Publicado em 1999

Mutational spectrum of NSDHL in CHILD syndrome

Por Bornholdt, D, Konig, A, Happle, R, Leveleki, L, Bittar, M, Danarti, R, Vahlquist, A, Tilgen, W, Reinhold, U, Poiares, B, Grosshans, E, Vabres, P, Niiyama, S, Sasaoka, K, Tanaka, T, Meiss, A, Treadwell, P, Lambert, D, Camacho, F, Grzeschik, K
Publicado em 2005