Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.
Fernández, Raquel M
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. [electronic resource] - American journal of medical genetics. Part A Apr 2012 - 816-20 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.35244 doi
Abnormalities, Multiple--genetics
Base Sequence
Cerebral Aqueduct--abnormalities
Corpus Callosum--pathology
DNA Mutational Analysis
Genetic Diseases, X-Linked--diagnosis
Hirschsprung Disease--diagnosis
Humans
Hydrocephalus--diagnosis
Infant
Male
Neural Cell Adhesion Molecule L1--genetics
Proto-Oncogene Mas
Sequence Analysis, DNA
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. [electronic resource] - American journal of medical genetics. Part A Apr 2012 - 816-20 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.35244 doi
Abnormalities, Multiple--genetics
Base Sequence
Cerebral Aqueduct--abnormalities
Corpus Callosum--pathology
DNA Mutational Analysis
Genetic Diseases, X-Linked--diagnosis
Hirschsprung Disease--diagnosis
Humans
Hydrocephalus--diagnosis
Infant
Male
Neural Cell Adhesion Molecule L1--genetics
Proto-Oncogene Mas
Sequence Analysis, DNA