Two Chinese Xia‐Gibbs syndrome patients with partial growth hormone deficiency
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DOI: 10.1002/mgg3.596
Abstract: Heterozygous mutations in the AT‐hook DNA‐binding motif containing one (AHDC1, OMIM * 615790) gene cause an autosomal dominant multisystem developmental disorder known as Xia‐Gibbs syndrome (OMIM #615829). Xia‐Gibbs syndrome typically presented with global developmental delay,… read more here.
Keywords: two chinese; chinese xia; xia gibbs; gibbs syndrome ... See more keywords