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