CHARGE Syndrome: Difference between revisions

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== Introduction ==
== Introduction ==
CHARGE syndrome is a complex genetic syndrome, that presents with a wide range of tissues/systems affected by mutations in the CHD7 gene.  
CHARGE syndrome is a complex genetic syndrome, that presents with a wide range of tissues/systems affected by mutations in the CHD7 gene.<ref>Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, Mehr S. [https://pubmed.ncbi.nlm.nih.gov/24548020/ CHARGE syndrome: a review.] J Paediatr Child Health. 2014 Jul;50(7):504-11.</ref>


== Diagnosis ==
== Diagnosis ==

Revision as of 10:59, 27 April 2023

Introduction[edit | edit source]

CHARGE syndrome is a complex genetic syndrome, that presents with a wide range of tissues/systems affected by mutations in the CHD7 gene.[1]

Diagnosis[edit | edit source]

Clinical features[edit | edit source]

Management[edit | edit source]

  1. Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, Mehr S. CHARGE syndrome: a review. J Paediatr Child Health. 2014 Jul;50(7):504-11.