Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1

Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia‐lymphedema syndrome‐1. WES is a useful approach for diagnosing rare single‐gene conditions with nonspecific phenotypes and should be considered early in the diagnost...

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Autores principales: Melber, Dora J., Andreasen, Tara S., Mao, Rong, Tvrdik, Tatiana, Miller, Christine E., Moore, Thomas R., Woelkers, Douglas A., Lamale‐Smith, Leah M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293140/
https://www.ncbi.nlm.nih.gov/pubmed/30564329
http://dx.doi.org/10.1002/ccr3.1804
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author Melber, Dora J.
Andreasen, Tara S.
Mao, Rong
Tvrdik, Tatiana
Miller, Christine E.
Moore, Thomas R.
Woelkers, Douglas A.
Lamale‐Smith, Leah M.
author_facet Melber, Dora J.
Andreasen, Tara S.
Mao, Rong
Tvrdik, Tatiana
Miller, Christine E.
Moore, Thomas R.
Woelkers, Douglas A.
Lamale‐Smith, Leah M.
author_sort Melber, Dora J.
collection PubMed
description Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia‐lymphedema syndrome‐1. WES is a useful approach for diagnosing rare single‐gene conditions with nonspecific phenotypes and should be considered early in the diagnostic process of investigating fetal abnormalities.
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spelling pubmed-62931402018-12-18 Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1 Melber, Dora J. Andreasen, Tara S. Mao, Rong Tvrdik, Tatiana Miller, Christine E. Moore, Thomas R. Woelkers, Douglas A. Lamale‐Smith, Leah M. Clin Case Rep Case Reports Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia‐lymphedema syndrome‐1. WES is a useful approach for diagnosing rare single‐gene conditions with nonspecific phenotypes and should be considered early in the diagnostic process of investigating fetal abnormalities. John Wiley and Sons Inc. 2018-10-24 /pmc/articles/PMC6293140/ /pubmed/30564329 http://dx.doi.org/10.1002/ccr3.1804 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Melber, Dora J.
Andreasen, Tara S.
Mao, Rong
Tvrdik, Tatiana
Miller, Christine E.
Moore, Thomas R.
Woelkers, Douglas A.
Lamale‐Smith, Leah M.
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1
title Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1
title_full Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1
title_fullStr Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1
title_full_unstemmed Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1
title_short Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1
title_sort novel mutation in ccbe 1 as a cause of recurrent hydrops fetalis from hennekam lymphangiectasia‐lymphedema syndrome‐1
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293140/
https://www.ncbi.nlm.nih.gov/pubmed/30564329
http://dx.doi.org/10.1002/ccr3.1804
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