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

This report characterizes Eiken syndrome and confirms that bi-allelic hypomorphic variants in PTH1R are likely to cause this condition.
PMID: 29987841 [PubMed - as supplied by publisher]

Source: Clinical Genetics - July 10, 2018 Category: Genetics & Stem Cells Authors: Moirangthem A, Narayanan DL, Jacob P, Nishimura G, Mortier G, Girisha KM Tags: Clin Genet Source Type: research