A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement

Autor: Douzgou S, Rawson M, Eulalia Baselga Torres, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, de Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG

Publikováno v: CLINICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Sp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b20c1ffad51302aaed5c0de3cac91e86
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19859

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Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

Autor: Metry D; Department of Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX., Copp HL; Department of Urology, University of California-San Francisco, San Francisco, CA., Rialon KL; Department of Surgery, Division of Pediatric Surgery, Texas Children's Hospital, Baylor College of Medicine, Houston, TX., Iacobas I; Department of Pediatrics, Cancer and Hematology Centers, Texas Children's Hospital, Baylor College of Medicine, Houston, TX., Baselga E; Department of Dermatology, Hospital San Joan de Deu, Barcelona, Spain., Dobyns WB; Department of Genetics, University of Minnesota, Minneapolis, MN., Drolet B; Department of Dermatology, University of Wisconsin, Madison, WI., Frieden IJ; Department of Dermatology and Pediatrics, University of California, San Francisco, San Francisco, CA., Garzon M; Department of Dermatology and Pediatrics, Columbia University, New York, NY., Haggstrom A; Department of Dermatology, Indiana University, Indianapolis, IN., Hanson D; Department of Orthopedics and Sports Medicine, Houston Methodist Hospital, Houston, TX., Hollenbach L; Department of Gynecology, University of Arkansas, Fayetteville, AR., Keppler-Noreuil KM; Department of Genetics, University of Wisconsin, Madison, WI., Maheshwari M; Department of Radiology, Medical College of Wisconsin, Madison, WI., Siegel DH; Department of Dermatology, Stanford University, Stanford, CA., Waseem S; Department of Gastroenterology, Indiana University School of Medicine, Indianapolis, IN., Dias M; Department of Neurosurgery, Pennsylvania State College of Medicine, Hershey, PA.

Publikováno v: The Journal of pediatrics [J Pediatr] 2024 Sep; Vol. 272, pp. 114101. Date of Electronic Publication: 2024 May 15.