Omslagsbillede

Extracellular matrix protein 1 gene mutation in turkish patients with lipoid proteinosis

Background: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by mucocutaneous lesions and hoarseness of voice that develop in early childhood. LP is caused by mutation in the extracellular matrix protein 1 (ECM1) gene, which is located on 1q21.2. Aims: This study ai...

Fuld beskrivelse

Saved in:

Bibliografiske detaljer
Main Authors:	Selma Bakar Dertlioğlu (Author), Tuba Gökdoğan Edgünlü (Author), Deniz Erol Şen (Author), Tugba Önal Süzek (Author)
Format:	Bog
Udgivet:	Wolters Kluwer Medknow Publications, 2019-01-01T00:00:00Z.
Fag:	article
Online adgang:	Connect to this object online.
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!

Lignende værker

Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis
af: Xu M, et al.
Udgivet: (2023)

Lipoid proteinosis
af: Sen Sumit, et al.
Udgivet: (2006)

Lipoid proteinosis
af: Mukhija Pooja, et al.
Udgivet: (2006)

Lipoid proteinosis in two siblings
af: Behera Samira Kumar, et al.
Udgivet: (2006)

Acitretin Treatment for Lipoid Proteinosis
af: Özgür Gündüz, et al.
Udgivet: (2012)

Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin
af: Claudia Carnevale, et al.
Udgivet: (2017)

Urbach-Wiethe disease (lipoid proteinosis)
af: Ulku Kucuk, et al.
Udgivet: (2012)

A Sporadic Family of Lipoid Proteinosis with Novel ECM1 Gene Mutations
af: Liu YL, et al.
Udgivet: (2024)

Lipoid proteinosis: A rare case revisited
af: Arun Achar, et al.
Udgivet: (2023)

Lipoid proteinosis: Curious case of two siblings!
af: Pooja Agarwal, et al.
Udgivet: (2020)

Association Between Lipoid Proteinosis And Coeliac Disease
af: Layla Bendaoud, et al.
Udgivet: (2023)

Lipoid proteinosis: A series of three cases
af: Astha Sharma, et al.
Udgivet: (2018)

Lipoid proteinosis: A rare clinical entity
af: Goyal Puja, et al.
Udgivet: (2012)

Novel compound heterozygous mutations of ECM1 in a Chinese family with lipoid proteinosis
af: Wei Wu, et al.
Udgivet: (2019)

Lipoid proteinosis: A review with two case reports
af: Vishal Kabre, et al.
Udgivet: (2015)

Lipoid Proteinosis: A Rare Encounter in Dental Office
af: Prasannasrinivas Deshpande, et al.
Udgivet: (2015)

Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions
af: Rameshwar Gutte, et al.
Udgivet: (2012)

Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
af: Rekha Thaddanee, et al.
Udgivet: (2014)

An unusual case of erythropoietic protoporphyria mimicking lipoid proteinosis
af: Sarabjit Kaur, et al.
Udgivet: (2019)

Lipoid proteinosis in a six-year-old child
af: Surajit Nayak, et al.
Udgivet: (2012)

Lipoid proteinosis: different clinical features in two siblings
af: Katarzyna Łuczak, et al.
Udgivet: (2019)

Successful use of acitretin in an indian child with lipoid proteinosis
af: Shraddha P Kote, et al.
Udgivet: (2022)

Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease),
af: Hiram Larangeira de Almeida Jr, et al.
Udgivet: (2022)

Intra-familial variability of lipoid proteinosis: An Indian case series
af: Kriti Lohia, et al.
Udgivet: (2021)

Lipoid Proteinosis: A Rare Case Report and Review of Literature
af: Damini Verma, et al.
Udgivet: (2024)

Urbach-Weithe disease (lipoid proteinosis): A classical presentation
af: Ankita Sangwan, et al.
Udgivet: (2016)

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis
af: Al-Fakey Yasser H, et al.
Udgivet: (2011)

Clinical and molecular characterization of lipoid proteinosis in three Indian families
af: Sahana M Srinivas, et al.
Udgivet: (2020)

Oral manifestations of lipoid proteinosis: A case report and literature review
af: S.M. Ravi Prakash, et al.
Udgivet: (2013)

Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings
af: Hera Tabassum, et al.
Udgivet: (2020)

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the <it>ECM1 </it>gene in a Pakistani family
af: Naeem Muhammad, et al.
Udgivet: (2011)

Oral findings in a child with lipoid proteinosis: A case report and review
af: S Mainali, et al.
Udgivet: (2011)

Lipoid Proteinosis treated as post acne scars - A clinical diagnostic error
af: Shagufta Rather, et al.
Udgivet: (2015)

A rare case report of lipoid proteinosis with distichiasis and trichomegaly: An interesting entity
af: H Bangaru, et al.
Udgivet: (2024)

Lipoid proteinosis with oral manifestation in a geriatric patient: A unique case report
af: Jayachandran Sadaksharam, et al.
Udgivet: (2015)

Oral Manifestations and Dental Management Considerations of Lipoid Proteinosis: A Case Report and Review of Literature
af: Fatemeh Jahanimoghadam, et al.
Udgivet: (2022)

Lipoid proteinosis coexisting with rare psychiatric manifestations: a case report with a review of literature
af: Kritika Gupta, et al.
Udgivet: (2023)

Lipoid Proteinosis Due to Homozygous Deletion Mutation (c.735delTG) in the ECM1 Gene Presents with Seizures and Hoarseness but No Skin Involvement
af: Hassan Vahidnezhad, et al.
Udgivet: (2020)

Cryosurgery (N2O) application to remove lip lesions of lipoid proteinosis syndrome: a case report
af: Amir Mansour Shirani
Udgivet: (2008)

Propofol orchestrates long non-coding RNAs in MCF7 cells, unraveling new avenues for breast cancer intervention
af: Cigir Biray Avci, et al.
Udgivet: (2024)