Genetic Conditions

In addition to tools/resources developed specifically by the PEN^® team or its partner associations (see PEN Handout Collections which includes translations and adaptations where available), links to tools/resources on external websites have been selected for this Knowledge Pathway based on their consistency with the evidence, authoritative source and currency. These external tools/resources are provided as sources of additional information believed to be reliable and accurate at the time of publication and should not be considered an endorsement of any information, service, product or company. Country-specific resources may not be totally consistent with the evidence presented in PEN, but are included to reflect current country guidelines and practice.

• Genetic Disorders - 22q11.2 Deletion Syndrome (22q11.2DS) Web Links

  Last Updated: 2017-03-09 – Website  

  A collection of website related to 22q11.2 deletion syndrome (22q11.2DS).

      Target Audience: Professional

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• Handbook for Galactosaemia

  Last Updated: 2021-07-06 – Manual/Guide  

  An educational resource from the National Organization for Rare Disorders (NORD) summarizing research on galactosemia, including signs and symptoms, causes, affected populations and therapies.

   Target Audience: Consumer

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