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Genetics of Lymphatic Anomalies from CAG

ABSTRACT:

Lymphatic anomaly, a rare and devastating disease spectrum of mostly unknown etiologies, is characterized by diffuse or multicentric proliferation of dilated lymphatic vessels, and includes a variety of diagnoses: lymphangiectasia, central conducting lymphatic anomaly, generalized lymphatic anomaly, kaposiform lymphangiomatosis, and Gorham Stout disease. Currently, most treatments are considered palliative; lymphatic anomalies are often chronic debilitating conditions that require multiple yearly outpatient visits and hospital admissions for procedures that ameliorate symptoms, but do not correct the underlying cause. Identifying the causal genes will be hugely informative for our understanding of diseases. This will also allow for the development of affordable and successful diagnostic tests and therapies in keeping with "precision medicine" implementation.

PROVIDER: phs001802 | dbGaP |

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs001802.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001802.LymphaticAnomalies_CAG.v1.p1.MULTI.pdf	Pdf
	manifest_phs001802.LymphaticAnomalies_CAG.v1.p1.c1.GRU.pdf	Pdf
	datadict_v2.xsl	Other

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