de Mollerat, Xavier J

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. [electronic resource] - Human molecular genetics Aug 2003 - 1959-71 p. digital

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

0964-6906

10.1093/hmg/ddg212 doi


Abnormalities, Multiple--genetics
Cell Line, Transformed
Chromosome Aberrations
Chromosomes, Human, Pair 10
Electrophoresis, Gel, Pulsed-Field
F-Box Proteins
Foot Deformities--genetics
Gene Duplication
Hand Deformities--genetics
Humans
Hybrid Cells
Models, Genetic
Pedigree
Phenotype
Polymorphism, Single-Stranded Conformational
Proteins--genetics
Sequence Analysis, DNA