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Health supervision for children and adolescents with 16p11.2 deletion syndrome.
- 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]
- Subjects :
- RARE diseases
PEDIATRICIANS
PRIMARY care
GENETIC disorders
EDUCATION
Subjects
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