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Article

Should we genotype the sperm of fathers from patients with 'de novo' mutations?

European journal of endocrinology - 1 Jan 2020

Pasmant Eric, Pacot Laurence

Abstract excerpt

In this issue of the European Journal of Endocrinology, Lin et al. report a de novo heterozygous nonsense variant in the PHEX gene in an X-linked hypophosphatemic rickets patient. The authors described a germline mosaicism in the sperm of the unaffected father of the proband, providing the opportunity to discuss the concept of isolated germline mosaicism. In addition to the genetic information passed on from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31658441
DOI: 10.1530/EJE-19-0759

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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