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. 2023 Sep 21;14:1244361. doi: 10.3389/fendo.2023.1244361

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Copyright © 2023 Mazarico-Altisent, Capel, Baena, Bella-Cueto, Barcons, Guirao, Pareja, Muntean, Arsentales, Caixàs and Rigla

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Pedigree of probands with detection of germline variant of CASR or TRPV6 genes and their relatives. Family members are indicated by generation (Roman numerals) and individuals (Arabic numerals). Arrows indicate index case; Circle, female; Square, male; Double line below descent line, no offspring; Empty symbol, unaffected family member; Filled symbol, affected family member (inappropriately non-suppressed or high parathyroid hormone levels with normal or elevated serum calcium levels); Filled spot, history of nephrolithiasis or severe vitamin D deficiency; Slashed symbol, deceased; +, mutation carrier; -, non mutation carrier;?, no genetic test performed.