학술논문

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

Document Type

article

Author

Melber, Dora J; Andreasen, Tara S; Mao, Rong; Tvrdik, Tatiana; Miller, Christine E; Moore, Thomas R; Woelkers, Douglas A; Lamale‐Smith, Leah M

Source

Clinical Case Reports. 6(12)

Subject

Reproductive Medicine
Biomedical and Clinical Sciences
Clinical Research
Pediatric
Rare Diseases
Genetics
4.1 Discovery and preclinical testing of markers and technologies
Detection
screening and diagnosis
congenital abnormalities
exome sequencing
genetic testing
Hennekam syndrome
hydrops fetalis
prenatal diagnosis
Agricultural
veterinary and food sciences
Biomedical and clinical sciences
Health sciences

Language

Abstract

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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