Ocular findings in Jansen metaphyseal chondrodysplasia.

bisphosphonate bone overgrowth craniofacial defects nerve fiber layer atrophy optic atrophy optic canal narrowing optic neuropathy vision loss visual field defects

Journal

JBMR plus
ISSN: 2473-4039
Titre abrégé: JBMR Plus
Pays: England
ID NLM: 101707013

Informations de publication

Date de publication:
Sep 2024
Historique:
received: 09 04 2024
revised: 06 06 2024
accepted: 17 06 2024
pmc-release: 12 07 2025
medline: 7 8 2024
pubmed: 7 8 2024
entrez: 7 8 2024
Statut: epublish

Résumé

Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by germline heterozygous

Identifiants

DOI: 10.1093/jbmrpl/ziae089 PMID: 39108358 PMC: PMC11299511
pubmed: 39108358
doi: 10.1093/jbmrpl/ziae089
pii: ziae089
pmc: PMC11299511
doi:

Types de publication

Journal Article

Langues

eng

Pagination

ziae089

Informations de copyright

Published by Oxford University Press on behalf of the American Society for Bone and Mineral Research 2024.

Déclaration de conflit d'intérêts

No conflicting relationship exists for any author.

Auteurs

Fiona Obiezu (F)

Skeletal Disorders & Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.
ORCID: 0009-0003-2652-9965

M Teresa Magone De Quadros Costa (MT)

National Eye Institute, National Institutes of Health, Bethesda, MD 20892, United States.

Laryssa A Huryn (LA)

National Eye Institute, National Institutes of Health, Bethesda, MD 20892, United States.

Kristen Pan (K)

Skeletal Disorders & Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.

Konstantinia Almpani (K)

Craniofacial Anomalies and Bone Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.

Anisha Ninan (A)

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, United States.

Kelly L Roszko (KL)

Skeletal Disorders & Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.
ORCID: 0000-0002-0284-5299

Lee S Weinstein (LS)

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, United States.

Rachel I Gafni (RI)

Skeletal Disorders & Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.

Carlos R Ferreira (CR)

Skeletal Genomics Unit, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, United States.

Janice Lee (J)

Craniofacial Anomalies and Bone Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.

Michael T Collins (MT)

Skeletal Disorders & Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.

Smita Jha (S)

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, United States.
ORCID: 0000-0001-9201-3340

Classifications MeSH