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4 articles related to "Shox Gene"

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Articles

Case Report

Published on 06 Nov 2019

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

in Genetics of Common and Rare Diseases

Yixi Sun
Yuqin Luo
Yeqing Qian
Min Chen
Liya Wang
Hongge Li
Yu Zou
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2019.01086

8,742 views
14 citations

Case Report

Published on 20 Sep 2018

An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure

in Pediatric Endocrinology

Emanuela Savarese
Benedetta Di Felice
Francesco Miconi
Gabriele Cabiati
Federica Celi
Francesco Crescenzi
Nicola Principi
Susanna Esposito

Frontiers in Endocrinology

doi 10.3389/fendo.2018.00557

4,366 views
4 citations

Original Research

Published on 30 May 2024

Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases

in Genomic Assay Technology

Yanan Wang
Yuqiong Chai
Jieqiong Wang
Mingya Gao
Weiwei Zang
Yujie Chang

Frontiers in Genetics

doi 10.3389/fgene.2024.1364769

2,125 views

Case Report

Published on 10 Apr 2018

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri–Weill Dyschondrosteosis

in Pediatric Endocrinology

Laura Lucchetti
Paolo Prontera
Amedea Mencarelli
Ester Sallicandro
Annalisa Mencarelli
Marta Cofini
Alberto Leonardi
Gabriela Stangoni
Laura Penta
Susanna Esposito

Frontiers in Endocrinology

doi 10.3389/fendo.2018.00163

5,981 views
3 citations