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Health supervision for children and adolescents with 16p11.2 deletion syndrome.

Authors :
Chung, Wendy K.
Herrera, Faranak F.
Source :
Cold Spring Harbor Molecular Case Studies; Dec2023, Vol. 9 Issue 4, p1-12, 12p
Publication Year :
2023

Abstract

Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the complexities of 16p11.2 deletion syndrome. A multidisciplinary medical home with the primary care provider leading the care and armed with up-to-date guidelines will prove most helpful to the rare genetic patient population. A special focus on technology to fill gaps in deficits, review of case studies on novel medical treatments, and involvement with the educational system for advocacy with an emphasis on celebrating diversity will serve the rare genetic syndrome population well. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
23732873
Volume :
9
Issue :
4
Database :
Complementary Index
Journal :
Cold Spring Harbor Molecular Case Studies
Publication Type :
Academic Journal
Accession number :
174966561
Full Text :
https://doi.org/10.1101/mcs.a006316