Kalay, Ersan

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. [electronic resource] - American journal of human genetics Jan 2012 - 76-85 p. digital

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

1537-6605

10.1016/j.ajhg.2011.11.014 doi


Adolescent
Animals
Base Sequence
Chromosomes, Human, Pair 21--genetics
Cleft Lip--genetics
Cleft Palate--genetics
DNA Mutational Analysis
Female
Genes, Recessive
Humans
Infant
Infant, Newborn
Male
Mice
Molecular Sequence Data
Mutation
NF-kappa B--metabolism
Polymorphism, Single Nucleotide
Protein Serine-Threonine Kinases--genetics
Pterygium--congenital
Skin Abnormalities