Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum"

Human Mutation

Volumn 37, Issue 3, 2016, Pages 242-245

  Di Donato, Nataliya ^a,b   Rump, Andreas ^a   Mirzaa, Ghayda M ^b,c   Alcantara, Diana ^d   Oliver, Antony ^d   Schrock, Evelin ^a   Dobyns, William B ^b,c   O'Driscoll, Mark ^d  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF SUSSEX   (United Kingdom)

Author keywords

Macrocephaly; Overgrowth; P110 ; PIK3CA

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; PIK3CA PROTEIN, HUMAN;

ARTICLE; BRAIN MALFORMATION; CALORIC RESTRICTION; CASE REPORT; CEREBELLUM VERMIS; CHILD; CONTROLLED STUDY; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; EXON; FACE DYSMORPHIA; FINGER MALFORMATION; GENE; GROWTH DISORDER; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; INTRON; MACROCEPHALY; MACROSOMIA; MALE; MICROGYRIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; PIK3CA GENE; PIK3CA RELATED OVERGROWTH SPECTRUM; PRESCHOOL CHILD; PRIORITY JOURNAL; STOICHIOMETRY; ALEXANDER DISEASE; GENETICS; MUTATION;

CHILD; HUMANS; MALE; MEGALENCEPHALY; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES;

EID: 84957936764     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22933     Document Type: Article

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