Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome

Clinical Dysmorphology

Volumn 25, Issue 1, 2016, Pages 16-18

  McDermott, John H ^a   Byers, Helen ^a   Clayton Smith, Jill ^a  

^a MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Megalencephaly Capillary Malformation Syndrome; Megalencephaly Cutis Marmorata Telangiectatica Congenita; Mosaicism; Overgrowth Disorders; PIK3CA

Indexed keywords

PROTEIN; PROTEIN PIK3CA; UNCLASSIFIED DRUG; DNA; PHOSPHATIDYLINOSITOL 3 KINASE; PIK3CA PROTEIN, HUMAN;

ADOLESCENT; ANASTOMOSIS; ARTICLE; BIOPSY; CASE REPORT; CHROMOSOME ANALYSIS; DECIDUOUS TOOTH; DEVELOPMENTAL DISORDER; FEMALE; GENE MUTATION; GENETIC SCREENING; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; HYPERHIDROSIS; MALFORMATION SYNDROME; MEGALENCEPHALY CAPILLARY MALFORMATION SYNDROME; MOSAICISM; MOTOR DEVELOPMENT; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; ALEXANDER DISEASE; CHEMISTRY; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; SKIN BLOOD VESSEL DISORDER; TELANGIECTASIS; TOOTH PULP;

ABNORMALITIES, MULTIPLE; ADOLESCENT; DENTAL PULP; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MEGALENCEPHALY; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; SKIN DISEASES, VASCULAR; TELANGIECTASIS;

EID: 84951908832     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0000000000000099     Document Type: Article

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