The PIK3CA gene and related vascular malformations
3.6 هزار بار بازدید -
4 سال پیش
-
This short Pill of Knowledge
This short Pill of Knowledge (PoK) video explains how an error in the PIK3CA gene can be the cause of congenital vascular malformations, such as lymphatic and venous malformations, which can be isolated or occur in overgrowth syndromes. Diagnosis and treatment are also briefly covered. It is intended for patients and the general public and uses simple language to introduce PIK3CA related vascular abnormalities, which includes the complex group of disorders known as PROS (PIK3CA-Related Overgrowth Spectrum).
Created by HEVAS (the Dutch Patient organisation for hemangioma and vascular malformations), this PoK was then revised and validated by VASCERN's Vascular Anomalies Working Group (VASCA WG).
Video in English
PoKs are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, defined as short single video lessons (of approximately 3-5 minutes long) that talk about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).
To learn more about the VASCA-WG: https://vascern.eu/expertise/rare-dis...
To learn more about VASCERN, please visit our website: www.vascern.eu
Created by HEVAS (the Dutch Patient organisation for hemangioma and vascular malformations), this PoK was then revised and validated by VASCERN's Vascular Anomalies Working Group (VASCA WG).
Video in English
PoKs are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, defined as short single video lessons (of approximately 3-5 minutes long) that talk about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).
To learn more about the VASCA-WG: https://vascern.eu/expertise/rare-dis...
To learn more about VASCERN, please visit our website: www.vascern.eu
4 سال پیش
در تاریخ 1399/09/19 منتشر شده
است.
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