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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease acrodysostosis
Comorbidity C0220659|acrodysostosis
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PubMedID- 24028571 In the case of acrodysostosis with multihormonal resistance (acrdys1, omim#101800), the gene responsible is camp-dependent protein kinase a (prkar1a), which has been localized to 17q24.2 and is involved in the signalling pathway downstream of gnas.

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