Report of second case and clinical and molecular characterization of Eiken syndrome
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DOI: 10.1111/cge.13413
Abstract: We report a boy with Eiken syndrome caused by a homozygous missense variant in Parathyroid hormone 1 receptor (PTH1R) c.103G > A [p.(Glu35Lys)]. Eiken syndrome is a very rare skeletal dysplasia due to bi‐allelic variants in PTH1R.… read more here.
Keywords: second case; eiken syndrome; case clinical; report ... See more keywords