Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. [electronic resource]
Producer: 20120312Description: 76-85 p. digitalISSN:- 1537-6605
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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