A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Por Hol, F A, Hamel, B C, Geurds, M P, Mullaart, R A, Barr, F G, Macina, R A, Mariman, E C
Publicado em 1995

Absence of linkage between familial neural tube defects and PAX3 gene.

Por Chatkupt, S, Hol, F A, Shugart, Y Y, Geurds, M P, Stenroos, E S, Koenigsberger, M R, Hamel, B C, Johnson, W G, Mariman, E C
Publicado em 1995

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

Por Hol, F A, Geurds, M P, Chatkupt, S, Shugart, Y Y, Balling, R, Schrander-Stumpel, C T, Johnson, W G, Hamel, B C, Mariman, E C
Publicado em 1996