Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia - Top-Institutions - MDSpire

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia

  • By

  • Susanne Spranger

  • Helene Faust

  • Patricia Duffek

  • Susanna Schubert

  • Heyko Skladny

  • Peter Kovacs

  • Anke Tönjes

  • Denny Popp

  • July 9, 2026

  • 0 min

Share

Top Institutions in Endocrinology

Brief introduction explaining scope and methodology.

  • #1

    Leipzig University
    Leipzig University

    Leipzig, Saxony

    Key Differentiators

    • Genetics

  • #2

    Tuiuti University of Paraná
    Tuiuti University of Paraná

    Curitiba, Paraná

    Key Differentiators

    • Genetics

  • #3

    Quanzhou Women's and Children's Hospital
    Quanzhou Women's and Children's Hospital

    Quanzhou, Fujian

    Key Differentiators

    • Genetics

  • #4

    Erasmus MC
    Erasmus MC

    Rotterdam, South Holland

    Key Differentiators

    • Genetics

Original Source(s)

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia

  • by Susanne Spranger, Helene Faust, Patricia Duffek, Susanna Schubert, Heyko Skladny, Peter Kovacs, Anke Tönjes, Denny Popp

  • July 9, 2026

Related Content

Development and validation of a predictive nomogram for osteoporosis in patients with psoriasis

Hemodynamic effects of finerenone on blood pressure and heart rate in hospitalized patients with type 2 diabetes: a real-world study

Value of thyroid volume as a complementary indicator for initial levothyroxine dosing in congenital hypothyroidism: a retrospective cohort study