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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease 22q11.2 deletion syndrome
Comorbidity C0013338|growth hormone deficiency
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PubMedID- 22075807 In literature few cases of associated 22q11.2 deletion syndrome with growth hormone deficiency are described, while short stature between children with and children without cleft palate is reported to be more frequent in the first ones, suggesting that the 22q11.2 deletion syndrome remains undetected in many affected children and that the growth hormone deficiency prevalence in affected children has to be investigated.

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