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