Phenotype expansion and development in Kosaki overgrowth syndrome-Reference-Cited by-同舟云学术

Phenotype expansion and development in Kosaki overgrowth syndrome

Published:2018-03-14 Issue:4 Volume:93 Page:919-924
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Gawliński P.¹^ORCID,Pelc M.²,Ciara E.²,Jhangiani S.³,Jurkiewicz E.⁴,Gambin T.¹⁵⁶,Różdżyńska-Świątkowska A.⁷,Dawidziuk M.¹,Coban-Akdemir Z.H.⁶,Guilbride D.L.,Muzny D.³,Lupski J.R.⁶³⁸,Krajewska-Walasek M.²

Affiliation:

1. Department of Medical Genetics; Institute of Mother and Child; Warsaw Poland

2. Department of Medical Genetics; The Children's Memorial Health Institute; Warsaw Poland

3. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

4. Department of Diagnostic Imaging; The Children's Memorial Health Institute; Warsaw Poland

5. Institute of Computer Science; Warsaw University of Technology; Warsaw Texas

6. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

7. Anthropology Laboratory; Children's Memorial Health Institute; Warsaw Poland

8. Texas Children's Hospital; Houston Texas

Funder

Narodowe Centrum Nauki

National Human Genome Research Institute/National Heart Lung and Blood Institute grant to Baylor-Hopkins Center for Mendelian Genomics

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13192/fullpdf

Reference10 articles.

1. Role of platelet-derived growth factors in physiology and medicine;Andrae;Genes Dev.,2008

2. PDGF signaling in cells and mice;Tallquist;Cytokine Growth Factor Rev.,2004

3. Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation;Takenouchi;J Pediatr.,2015

4. Expansion of the phenotype of Kosaki overgrowth syndrome;Minatogawa;Am J Med Genet.,2017

5. Determinants of mutation rate variation in the human germline;Ségurel;Annu Rev Genomics Hum Genet.,2014

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