Literature DB >> 19499766

Congenital lymphatic dysplasias: genetics review and resources for the lymphologist.

C Bellini1, M H Witte, C Campisi, E Bonioli, F Boccardo.   

Abstract

Diagnosing congenital lymphatic dysplasia and counseling the parents of babies with possible genetic conditions represents a difficult task. This article attempts to provide a guide to establishing genetic tools and a reference library for use in the diagnostic work-up of congenital lymphatic diseases. The tools that are outlined herein are not meant to replace genetic counseling; their role is merely to facilitate the interaction between lymphologist and geneticist. These tools are a way of identifying lymphatic dysplasias at a very early stage.

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Year:  2009        PMID: 19499766

Source DB:  PubMed          Journal:  Lymphology        ISSN: 0024-7766            Impact factor:   1.286


  2 in total

1.  A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.

Authors:  Carole Sargent; Julien Bauer; Muhamed Khalil; Parker Filmore; Michael Bernas; Marlys Witte; M Peggy Pearson; Robert P Erickson
Journal:  Am J Med Genet A       Date:  2014-09-22       Impact factor: 2.802

2.  A Case of Congenital Lymphedema Complicated by Chronic Chylous Effusions and Recurrent Pericardial Effusion Requiring Pericardial Window.

Authors:  Abdulrahman Katabi; Mohammed Al-Ourani; Fuad Zeid
Journal:  Cureus       Date:  2020-05-16
  2 in total

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