TY  - GEN
AU  - Baquero-Montoya,Carolina
AU  - Gil-Rodríguez,María-Concepción
AU  - Hernández-Marcos,María
AU  - Teresa-Rodrigo,María-Esperanza
AU  - Vicente-Gabas,Alicia
AU  - Bernal,María-Luisa
AU  - Casale,Cesar-Horacio
AU  - Bueno-Lozano,Gloria
AU  - Bueno-Martínez,Inés
AU  - Queralt,Ethel
AU  - Villa,Olaya
AU  - Hernando-Davalillo,Cristina
AU  - Armengol,Lluís
AU  - Gómez-Puertas,Paulino
AU  - Puisac,Beatriz
AU  - Selicorni,Angelo
AU  - Ramos,Feliciano J
AU  - Pié,Juan
TI  - Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
SN  - 1878-0849
PY  - 2015///0706
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Cell Cycle Proteins
KW  - Comparative Genomic Hybridization
KW  - De Lange Syndrome
KW  - diagnosis
KW  - Exome
KW  - Gene Order
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Male
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Musculoskeletal Abnormalities
KW  - genetics
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Protein Conformation
KW  - Proteins
KW  - chemistry
KW  - Sequence Alignment
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejmg.2014.05.006
ER  -