TY  - GEN
AU  - Fernández,Raquel M
AU  - Núñez-Torres,Rocío
AU  - García-Díaz,Lutgardo
AU  - de Agustín,Juan Carlos
AU  - Antiñolo,Guillermo
AU  - Borrego,Salud
TI  - Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene
SN  - 1552-4833
PY  - 2012///0730
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Base Sequence
KW  - Cerebral Aqueduct
KW  - abnormalities
KW  - Corpus Callosum
KW  - pathology
KW  - DNA Mutational Analysis
KW  - Genetic Diseases, X-Linked
KW  - diagnosis
KW  - Hirschsprung Disease
KW  - Humans
KW  - Hydrocephalus
KW  - Infant
KW  - Male
KW  - Neural Cell Adhesion Molecule L1
KW  - Proto-Oncogene Mas
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.35244
ER  -