Molecular diagnosis of somatic overgrowth conditions: A single‐center experience-Reference-Cited by-同舟云学术

Molecular diagnosis of somatic overgrowth conditions: A single‐center experience

Published:2019-02-13 Issue:3 Volume:7 Page:e536
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Lalonde Emilie¹^ORCID,Ebrahimzadeh Jessica¹,Rafferty Keith¹,Richards‐Yutz Jennifer¹,Grant Richard¹,Toorens Erik²,Marie Rosado Jennifer²,Schindewolf Erica³,Ganguly Tapan²,Kalish Jennifer M.⁴⁵,Deardorff Matthew A.⁴⁵,Ganguly Arupa¹

Affiliation:

1. Genetic Diagnostic Laboratory, Department of Genetics University of Pennsylvania Philadelphia Pennsylvania

2. Penn Genomic Analysis Core, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania

3. Center for Fetal Diagnosis and Treatment Children’s Hospital of Philadelphia Philadelphia Pennsylvania

4. Division of Human Genetics Children’s Hospital of Philadelphia Philadelphia Pennsylvania

5. Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.536

Reference18 articles.

1. Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway

2. A genomic view of mosaicism and human disease

3. Cerami E. Gao J. Dogrusoz U. Gross B. E. Sumer S. O. Aksoy B. A. …Larsson E.(2012).The cBio cancer genomics portal: An open platform for exploring multidimensional cancer genomics data AACR.

4. Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel

5. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaicPIK3CAmutation in cultured amniocytes

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4. Genetic mutations and phenotype characteristics in peripheral vascular malformations: A systematic review;Journal of the European Academy of Dermatology and Venereology;2023-12

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