Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.

Hdl Handle:
http://hdl.handle.net/10147/233693
Title:
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.
Authors:
O'Rourke, Declan John; Twomey, Eilish; Lynch, Sally-Ann; King, Mary D
Affiliation:
Department of Neurology, Children's University Hospital, Dublin, Ireland. declanorourke@mac.com
Citation:
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. 2012, 21 (2):91-2 Clin. Dysmorphol.
Journal:
Clinical dysmorphology
Issue Date:
Apr-2012
URI:
http://hdl.handle.net/10147/233693
DOI:
10.1097/MCD.0b013e328351639d
PubMed ID:
22327138
Item Type:
Article
Language:
en
MeSH:
Adult; Amino Acid Substitution; Brain; Exons; Hamartoma Syndrome, Multiple; Humans; Infant; Magnetic Resonance Imaging; Male; Malformations of Cortical Development; Mutation; PTEN Phosphohydrolase
ISSN:
1473-5717

Full metadata record

DC FieldValue Language
dc.contributor.authorO'Rourke, Declan Johnen_GB
dc.contributor.authorTwomey, Eilishen_GB
dc.contributor.authorLynch, Sally-Annen_GB
dc.contributor.authorKing, Mary Den_GB
dc.date.accessioned2012-07-13T13:35:01Z-
dc.date.available2012-07-13T13:35:01Z-
dc.date.issued2012-04-
dc.identifier.citationCortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. 2012, 21 (2):91-2 Clin. Dysmorphol.en_GB
dc.identifier.issn1473-5717-
dc.identifier.pmid22327138-
dc.identifier.doi10.1097/MCD.0b013e328351639d-
dc.identifier.urihttp://hdl.handle.net/10147/233693-
dc.language.isoenen
dc.rightsArchived with thanks to Clinical dysmorphologyen_GB
dc.subject.meshAdult-
dc.subject.meshAmino Acid Substitution-
dc.subject.meshBrain-
dc.subject.meshExons-
dc.subject.meshHamartoma Syndrome, Multiple-
dc.subject.meshHumans-
dc.subject.meshInfant-
dc.subject.meshMagnetic Resonance Imaging-
dc.subject.meshMale-
dc.subject.meshMalformations of Cortical Development-
dc.subject.meshMutation-
dc.subject.meshPTEN Phosphohydrolase-
dc.titleCortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment of Neurology, Children's University Hospital, Dublin, Ireland. declanorourke@mac.comen_GB
dc.identifier.journalClinical dysmorphologyen_GB
dc.description.provinceLeinsteren

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