Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1-Reference-Cited by-同舟云学术

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

Published:2018-10-24 Issue:12 Volume:6 Page:2358-2363
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Melber Dora J.¹^ORCID,Andreasen Tara S.²,Mao Rong³⁴,Tvrdik Tatiana³⁴,Miller Christine E.⁴,Moore Thomas R.⁵,Woelkers Douglas A.⁵,Lamale‐Smith Leah M.⁵

Affiliation:

1. Department of Obstetrics, Gynecology and Reproductive SciencesUniversity of California San Diego La Jolla California

2. Division of GeneticsDepartment of PediatricsUniversity of California San Diego La Jolla California

3. Department of PathologyUniversity of Utah Salt Lake City Utah

4. ARUP Laboratories Salt Lake City Utah

5. Division of Maternal‐Fetal MedicineDepartment of Obstetrics, Gynecology, and Reproductive SciencesUniversity of California San Diego La Jolla California

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.1804

Reference29 articles.

1. Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review

2. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

3. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

4. Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations;Alders M;Mol Syndromol,2013

5. Genetics of lymphatic anomalies

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1. Fetal Hydrops;Keeling's Fetal and Neonatal Pathology;2022

2. Primary Lymphedema with Concomitant Vascular and Lymphatic Lesions;Principles and Practice of Lymphedema Surgery;2022

3. Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome;Journal of Clinical Immunology;2021-06-26

4. Syndrombegleitende Lymphödeme;Fallbuch Physiotherapie Lymphologie;2021

5. Fetal hydrops – a review and a clinical approach to identifying the cause;Expert Opinion on Orphan Drugs;2020-02-13