Mutation in LEMD3 (Man1) Associated With Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

Case Reports in Dermatological Medicine
doi 10.1155/2016/2483041
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Hindawi Limited

Related search

A Case Report of a Symptomatic Osteopoikilosis Patient Caused by Novel Mutation in LEMD3

Endocrine Abstracts
2016English

SAT0614 New Variant in the Il1rn-Gene Associated With Late Onset and Atypical Presentation of Dira

2018English

Novel P397S MAPT Variant Associated With Late Onset and Slow Progressive Frontotemporal Dementia

Annals of Clinical and Translational Neurology
NeuroscienceNeurology
2019English

Phenotypic Characterization of an Older Adult Male With Late-Onset Epilepsy and a Novel Mutation in ASXL3 Shows Overlap With the Associated Bainbridge-Ropers Syndrome

Neuropsychiatric Disease and Treatment
2018English

Pediatric Cohort With Long QT Syndrome – KCNH2 Mutation Carriers Present Late Onset but Severe Symptoms –

Circulation Journal
MedicineCardiovascular MedicineCardiology
2016English

Late-Onset Drug Fever Associated With Minocycline.

Postgraduate Medical Journal
Medicine
1990English

A Novel Homozygous Mutation of GJB2—A New Variant of Keratitis-Ichthyosis-Deafness Syndrome?

JAAD Case Reports
Dermatology
2019English

A Case Report With Osteopoicileosis and Collagenoma: Buschke-Ollendorff Syndrome

2019English

T130I Mutation in HNF-4α Gene Is a Loss-Of-Function Mutation in Hepatocytes and Is Associated With Late-Onset Type 2 Diabetes Mellitus in Japanese Subjects

Diabetologia
Internal MedicineEndocrinologyMetabolismDiabetes
2003English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy