Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

Jamsheer, Aleksander

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. [electronic resource] - Journal of medical genetics Sep 2013 - 579-84 p. digital

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

1468-6244

10.1136/jmedgenet-2013-101659 doi


Child
Codon, Nonsense
Embryo, Mammalian
Exome
Female
Fibroblast Growth Factors--genetics
Genetic Diseases, X-Linked--genetics
Hand Deformities, Congenital--genetics
Humans
Male
Metacarpal Bones--abnormalities
Organ Specificity
Sequence Analysis, DNA