TY  - GEN
AU  - Wierzba,Jolanta
AU  - Gil-Rodríguez,María Concepción
AU  - Polucha,Anna
AU  - Puisac,Beatriz
AU  - Arnedo,María
AU  - Teresa-Rodrigo,María Esperanza
AU  - Winnicka,Dorota
AU  - Hegardt,Fausto G
AU  - Ramos,Feliciano J
AU  - Limon,Janusz
AU  - Pié,Juan
TI  - Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
SN  - 1471-2350
PY  - 2013///0103
KW  - Cell Cycle Proteins
KW  - Child
KW  - De Lange Syndrome
KW  - genetics
KW  - Female
KW  - Frameshift Mutation
KW  - Humans
KW  - Lymphocytes
KW  - Mosaicism
KW  - Mouth Mucosa
KW  - Proteins
KW  - Severity of Illness Index
KW  - Turner Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1186/1471-2350-13-43
ER  -