Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment-Reference-Cited by-同舟云学术

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

Published:2019-02-17 Issue:5 Volume:179 Page:827-831
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Catania Alessia¹,Legati Andrea¹,Peverelli Lorenzo¹²,Nanetti Lorenzo¹,Marchet Silvia¹,Zanetti Nadia¹,Lamperti Costanza¹,Ghezzi Daniele¹³^ORCID

Affiliation:

1. Unit of Medical Genetics and Neurogenetics; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy

2. Neuromuscular and Rare Diseases Unit, Department of Neuroscience; Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Milan Italy

3. Department of Pathophysiology and Transplantation; University of Milan; Milan Italy

Funder

Fondazione Pierfranco e Luisa Mariani

Fondazione Telethon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61092/fullpdf

Reference21 articles.

1. The homeobox gene Otx2 in development and disease;Beby;Experimental Eye Research,2013

2. The wide POLG-related spectrum: An integrated view;Béreau;Journal of the Neurological Sciences,2016

3. Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23;Brisset;Molecular Cytogenetics,2014

4. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies;Coutelier;Brain,2017

5. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype;Dateki;The Journal of Clinical Endocrinology and Metabolism,2010

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders;Molecular Neurobiology;2023-11-28

2. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement;The American Journal of Human Genetics;2022-09

3. Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes;International Journal of Molecular Sciences;2020-02-26

4. Pituitary Transcription Factor Mutations Leading to Hypopituitarism;Experientia Supplementum;2019