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Article

Report of second case and clinical and molecular characterization of Eiken syndrome.

Clinical genetics - 1 Nov 2018

Moirangthem A, Narayanan D L, Jacob P, Nishimura G, Mortier G, Girisha K M

Abstract excerpt

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. Only one affected family has been known to-date. The hallmarks include delayed ossification of bone including the epiphyses, pubic symphysis, and primary ossification centers of the...

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Identifiers

PMID: 29987841
DOI: 10.1111/cge.13413

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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