TY  - GEN
AU  - Vissers,Lisenka E L M
AU  - Bonetti,Monica
AU  - Paardekooper Overman,Jeroen
AU  - Nillesen,Willy M
AU  - Frints,Suzanna G M
AU  - de Ligt,Joep
AU  - Zampino,Giuseppe
AU  - Justino,Ana
AU  - Machado,José C
AU  - Schepens,Marga
AU  - Brunner,Han G
AU  - Veltman,Joris A
AU  - Scheffer,Hans
AU  - Gros,Piet
AU  - Costa,José L
AU  - Tartaglia,Marco
AU  - van der Burgt,Ineke
AU  - Yntema,Helger G
AU  - den Hertog,Jeroen
TI  - Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
SN  - 1476-5438
PY  - 2015///1022
KW  - Amino Acid Substitution
KW  - Animals
KW  - DNA Mutational Analysis
KW  - Exome
KW  - Facies
KW  - Female
KW  - Gene Expression
KW  - Germ-Line Mutation
KW  - Heterozygote
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Male
KW  - Models, Molecular
KW  - Mutation
KW  - Noonan Syndrome
KW  - genetics
KW  - Pedigree
KW  - Phenotype
KW  - Protein Conformation
KW  - Zebrafish
KW  - alpha-Macroglobulins
KW  - chemistry
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2014.115
ER  -