Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. [electronic resource]
Producer: 20120531Description: 740-5 p. digitalISSN:- 1537-6605
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- Cyclic AMP-Dependent Protein Kinase RIalpha Subunit -- genetics
- Cyclic Nucleotide Phosphodiesterases, Type 3 -- genetics
- Cyclic Nucleotide Phosphodiesterases, Type 4
- Dysostoses -- genetics
- Exome -- genetics
- Female
- Humans
- Intellectual Disability -- genetics
- Male
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias -- genetics
- Parathyroid Hormone -- metabolism
- Sequence Analysis, DNA
- Signal Transduction -- genetics
- Thyrotropin -- metabolism
- Young Adult
No physical items for this record
Publication Type: Journal Article
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