PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

American Journal of Medical Genetics, Part A

Volumn 167, Issue 2, 2015, Pages 287-295

  Keppler Noreuil, Kim M ^a   Rios, Jonathan J ^b   Parker, Victoria E R ^c   Semple, Robert K ^c   Lindhurst, Marjorie J ^a   Sapp, Julie C ^a   Alomari, Ahmad ^d   Ezaki, Marybeth ^b   Dobyns, William ^e   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

Author keywords

CLOVES syndrome; Fibroadipose overgrowth; Macrodactyly; PIK3CA gene; PIK3CA related overgrowth spectrum (PROS); Segmental overgrowth; Somatic mosaicism

Indexed keywords

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

ARTICLE; CLINICAL EXAMINATION; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; GENE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HUMAN; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PHENOTYPE; PIK3CA GENE; PIK3CA RELATED OVERGROWTH SPECTRUM; PRACTICE GUIDELINE; SOMATIC MUTATION; VALIDATION PROCESS; CONSENSUS DEVELOPMENT; GENETIC ASSOCIATION STUDY; GENETICS; GROWTH DISORDERS; METABOLISM; SYNDROME;

DIAGNOSIS, DIFFERENTIAL; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GROWTH DISORDERS; HUMANS; PHENOTYPE; PHOSPHATIDYLINOSITOL 3-KINASES; SYNDROME;

EID: 84921342741     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36836     Document Type: Article

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