Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.

Pasteris, N G

Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. [electronic resource] - Human molecular genetics Jul 1993 - 953-9 p. digital

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

0964-6906

10.1093/hmg/2.7.953 doi


Bone and Bones--abnormalities
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 2
Cleft Palate--genetics
Female
Genes, Dominant
Genes, Homeobox
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability--genetics
Male
Microcephaly--genetics
Pedigree
Phenotype
Waardenburg Syndrome--classification