Link: https://www.ncbi.nlm.nih.gov/pubmed/20301533

Congenital Diaphragmatic Hernia Overview.
AuthorsLongoni M1, Pober BR2, High FA3.
EditorsIn: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Feb 1 [updated 2019 Mar 28].
Author information
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
Purpose
1. Clinical Characteristics of Congenital Diaphragmatic Hernia
2. Genetic Causes of Congenital Diaphragmatic Hernia
3. Evaluation Strategies to Identify the Genetic Cause of Congenital Diaphragmatic Hernia in a Proband
4. Genetic Counseling
Resources
5. Management
References
Chapter Notes
PMID: 20301533
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