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2 articles related to "Metacarpal Bones"

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Articles

Case Report

Published on 30 Jun 2022

Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance

in Pediatric Endocrinology

Tanguy Demaret
René Wintjens
Gwenaelle Sana
Joachim Docquir
Frederic Bertin
Christophe Ide
Olivier Monestier
Deniz Karadurmus
Valerie Benoit
Isabelle Maystadt

Frontiers in Endocrinology

doi 10.3389/fendo.2022.928284

4,741 views
7 citations

Case Report

Published on 22 Aug 2019

Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I

in Genetics of Common and Rare Diseases

Vita Setrajcic Dragos
Ana Blatnik
Gasper Klancar
Vida Stegel
Mateja Krajc
Olga Blatnik
Srdjan Novakovic

Frontiers in Genetics

doi 10.3389/fgene.2019.00762

9,396 views
7 citations