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IMAGe syndrome
- ... hypoplasia congenita is the most severe feature of IMAGe syndrome. The adrenal glands are a pair of small ... be life-threatening.The genital abnormalities associated with IMAGe syndrome occur only in affected males. They include an ...
- ... this condition. Because this gene is paternally imprinted, IMAGe syndrome results only when the variant is present on ... the gene.The CDKN1C gene variants that cause IMAGe syndrome replace single amino acids in a region known ...
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