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

Clinical Dysmorphology

Volumn 21, Issue 2, 2012, Pages 91-92

  O'Rourke, Declan John ^a   Twomey, Eilish ^a   Lynch, Sally Ann ^b   King, Mary D ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADOLESCENT; ADULT; ARACHNOID CYST; ARTICLE; BANNAYAN RILEY RUVALCABA SYNDROME; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER; CORTICAL DYSPLASIA; FAMILY HISTORY; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; AMINO ACID SUBSTITUTION; BRAIN; EXONS; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION; PTEN PHOSPHOHYDROLASE;

EID: 84858281918     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328351639d     Document Type: Article

References (10)

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