Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.

Thauvin-Robinet, Christel

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. [electronic resource] - Human mutation Feb 2009 - E320-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.20888 doi


Female
Genome, Human--genetics
Humans
Orofaciodigital Syndromes--genetics
Polymerase Chain Reaction
Proteins--genetics
Sequence Analysis, DNA
Sequence Deletion