Congenital Diaphragmatic Hernia Overview.
Editors
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.
Source
GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Feb 1 [updated 2019 Mar 28].
https://www.ncbi.nlm.nih.gov/pubmed/20301533
Excerpt
The purpose of this overview is to increase the awareness of clinicians regarding congenital diaphragmatic hernia and its genetic causes and management. The following are the goals of this overview. GOAL 1: Describe the clinical characteristics of congenital diaphragmatic hernia. GOAL 2: Review the genetic causes of congenital diaphragmatic hernia. GOAL 3: Provide an evaluation strategy to identify the genetic cause of congenital diaphragmatic hernia in a proband (when possible). GOAL 4: Inform genetic counseling of family members of an individual with congenital diaphragmatic hernia. GOAL 5: Review management of congenital diaphragmatic hernia.
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Sections
- PMID:
- 20301533
