Philips, Anju K

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. [electronic resource] - Orphanet journal of rare diseases Apr 2014 - 49 p. digital

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

1750-1172

10.1186/1750-1172-9-49 doi


Adolescent
Adult
Exome--genetics
Female
Genes, X-Linked
Humans
Intellectual Disability--genetics
Male
Mutation
Pedigree
Young Adult