Abstract |
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Authors | Danielle C Lynch, David A Dyment, Lijia Huang, Sarah M Nikkel, Didier Lacombe, Philippe M Campeau, Brendan Lee, Carlos A Bacino, Jacques L Michaud, Francois P Bernier, FORGE Canada Consortium, Jillian S Parboosingh, A Micheil Innes |
Journal | Human mutation
(Hum Mutat)
Vol. 34
Issue 1
Pg. 97-102
(Jan 2013)
ISSN: 1098-1004 [Electronic] United States |
PMID | 23033274
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2012 Wiley Periodicals, Inc. |
Chemical References |
- Cyclic Nucleotide Phosphodiesterases, Type 3
- Cyclic Nucleotide Phosphodiesterases, Type 4
- PDE4D protein, human
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Topics |
- Adult
- Amino Acid Sequence
- Child
- Child, Preschool
- Cyclic Nucleotide Phosphodiesterases, Type 3
(chemistry, genetics)
- Cyclic Nucleotide Phosphodiesterases, Type 4
- DNA Mutational Analysis
- Dysostoses
(genetics)
- Family Health
- Female
- Genetic Predisposition to Disease
(genetics)
- Humans
- Intellectual Disability
(genetics)
- Male
- Models, Molecular
- Mutation, Missense
- Osteochondrodysplasias
(genetics)
- Pedigree
- Protein Structure, Tertiary
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