Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1713-1733

  Keppler Noreuil, Kim M ^a   Sapp, Julie C ^a   Lindhurst, Marjorie J ^a   Parker, Victoria E R ^b   Blumhorst, Cathy ^a   Darling, Thomas ^c   Tosi, Laura L ^d   Huson, Susan M ^e   Whitehouse, Richard W ^f   Jakkula, Eveliina ^g   Grant, Ian ^h   Balasubramanian, Meena ⁱ   Chandler, Kate E ^e   Fraser, Jamie L ^a   Gucev, Zoran ^j   Crow, Yanick J ^e   Brennan, Leslie Manace ^k   Clark, Robin ^l   Sellars, Elizabeth A ^m   Pena, Loren Dm ⁿ   Krishnamurty, Vidya ^o   Shuen, Andrew ^p   Braverman, Nancy ^q   Cunningham, Michael L ^r   Sutton, V Reid ^s   Tasic, Velibor ^t   Graham, John M ^u   Geer, Joseph ^v   Henderson, Alex ^w   Semple, Robert K ^b   Biesecker, Leslie G ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c Uniformed Services University of the Health Sciences and the Walter Reed National Military Medical Center   (United States)

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

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^g HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^h CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

ⁱ SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^j SS CYRIL AND METHODIUS UNIVERSITY OF SKOPJE   (Macedonia)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l LOMA LINDA UNIVERSITY MEDICAL CENTER   (United States)

^m ARKANSAS CHILDREN S HOSPITAL   (United States)

ⁿ DUKE UNIVERSITY MEDICAL CENTER   (United States)

^o Pediatrics and Genetics Clinics   (United States)

^p MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^q RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^r UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^s BAYLOR COLLEGE OF MEDICINE   (United States)

^t UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^u HARBOR UCLA MEDICAL CENTER   (United States)

^v GREENWOOD GENETIC CENTER   (United States)

^w NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

more..

Author keywords

CLOVES syndrome; Fibroadipose overgrowth; Macrodactyly; PIK3CA gene; Segmental overgrowth; Somatic mosaicism

Indexed keywords

ADIPOSE TISSUE; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CONGENITAL BLOOD VESSEL MALFORMATION; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HISTORY; HUMAN; LIMB MALFORMATION; MACRODACTYLY; MALE; MOSAICISM; NEVUS; OVERGROWTH DISORDER; PIK3CA GENE; POLYDACTYLY; PRIORITY JOURNAL; PUBERTY; SEX RATIO; SOMATIC MUTATION; SYNDACTYLY; ANTIBODY SPECIFICITY; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; HYPERPLASIA; INFANT; LIPOMA; MIDDLE AGED; MUSCULOSKELETAL ABNORMALITIES; MUTATION; NEWBORN; ONSET AGE; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; VASCULAR MALFORMATIONS; YOUNG ADULT;

PHOSPHATIDYLINOSITOL 3 KINASE; PIK3CA PROTEIN, HUMAN;

ADIPOSE TISSUE; ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; HYPERPLASIA; INFANT; INFANT, NEWBORN; LIPOMA; MALE; MIDDLE AGED; MUSCULOSKELETAL ABNORMALITIES; MUTATION; NEVUS; ORGAN SPECIFICITY; PHENOTYPE; PHOSPHATIDYLINOSITOL 3-KINASES; VASCULAR MALFORMATIONS; YOUNG ADULT;

EID: 84902543512     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36552     Document Type: Article

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