Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. [electronic resource]
Producer: 20120730Description: 816-20 p. digitalISSN:- 1552-4833
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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