TY  - GEN
AU  - Michot,Caroline
AU  - Le Goff,Carine
AU  - Goldenberg,Alice
AU  - Abhyankar,Avinash
AU  - Klein,Céline
AU  - Kinning,Esther
AU  - Guerrot,Anne-Marie
AU  - Flahaut,Philippe
AU  - Duncombe,Alice
AU  - Baujat,Genevieve
AU  - Lyonnet,Stanislas
AU  - Thalassinos,Caroline
AU  - Nitschke,Patrick
AU  - Casanova,Jean-Laurent
AU  - Le Merrer,Martine
AU  - Munnich,Arnold
AU  - Cormier-Daire,Valérie
TI  - Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
SN  - 1537-6605
PY  - 2012///0531
KW  - Adolescent
KW  - Adult
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
KW  - genetics
KW  - Cyclic Nucleotide Phosphodiesterases, Type 3
KW  - Cyclic Nucleotide Phosphodiesterases, Type 4
KW  - Dysostoses
KW  - Exome
KW  - Female
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - Parathyroid Hormone
KW  - metabolism
KW  - Sequence Analysis, DNA
KW  - Signal Transduction
KW  - Thyrotropin
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ajhg.2012.03.003
ER  -