TY  - GEN
AU  - Pasteris,N G
AU  - Trask,B J
AU  - Sheldon,S
AU  - Gorski,J L
TI  - Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35
SN  - 0964-6906
PY  - 1993///1004
KW  - Bone and Bones
KW  - abnormalities
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 2
KW  - Cleft Palate
KW  - genetics
KW  - Female
KW  - Genes, Dominant
KW  - Genes, Homeobox
KW  - Genetic Markers
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Intellectual Disability
KW  - Male
KW  - Microcephaly
KW  - Pedigree
KW  - Phenotype
KW  - Waardenburg Syndrome
KW  - classification
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1093/hmg/2.7.953
ER  -