Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

American Journal of Medical Genetics, Part A

Volumn 164, Issue 3, 2014, Pages 627-633

  Vanderver, Adeline ^a   Tonduti, Davide ^b   Kahn, Ilana ^a   Schmidt, Johanna ^a   Medne, Livija ^c   Vento, Jodie ^d   Chapman, Kimberly A ^a   Lanpher, Brendan ^a   Pearl, Phillip ^a   Gropman, Andrea ^a   Lourenco, Charles ^e   Bamforth, John Steven ^f   Sharpe, Cynthia ^g   Pineda, Mercédes ^h   Schallner, Jens ⁱ   Bodamer, Olaf ^j   Orcesi, Simona ^k   Oberstein, Saskia A J Lesnik ^l   Sistermans, Erik A ^m   Yntema, Helger G ⁿ   Bonnemann, Carsten ^o   Waldman, Amy T ^c   Van Der Knaap, Marjo S ^m   more..

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF PAVIA   (Italy)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f UNIVERSITY OF ALBERTA HOSPITAL   (Canada)

^g STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^h HOSPITAL SANT JOAN DE DÉU   (Spain)

ⁱ UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^j UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^k C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^l LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^m VU UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁿ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^o NATIONAL INSTITUTES OF HEALTH   (United States)

more..

Author keywords

Autism spectrum disorder; Genetics; Hamartoma; Leukoencephalopathy; Macrocephaly; Magnetic resonance imaging; Perivascular; PTEN

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ARTICLE; AUTISM; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENE SEQUENCE; HAMARTOMA; HUMAN; IMAGE ANALYSIS; MACROCEPHALY; MALE; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PTEN GENE; PTEN HAMARTOMA TUMOR SYNDROME; RETROSPECTIVE STUDY; WHITE MATTER LESION;

AUTISM SPECTRUM DISORDER; GENETICS; HAMARTOMA; LEUKOENCEPHALOPATHY; MACROCEPHALY; MAGNETIC RESONANCE IMAGING; PERIVASCULAR; PTEN;

BRAIN; CEPHALOMETRY; CHILD, PRESCHOOL; FEMALE; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; INFANT; INFANT, NEWBORN; MACROCEPHALY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PTEN PHOSPHOHYDROLASE;

EID: 84894282819     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36309     Document Type: Article

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