Cargando…

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum

BACKGROUND: SALL4, a member of the SALL genes family, encodes a zinc-finger transcriptional factor that either activates or represses gene transcription depending on cell type during embryonic development. SALL4 mutations cause extremely variable conditions including Duane-radial ray (DRR), Okihiro,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ajam-Hosseini, Mobarakeh, Parvini, Farshid, Angaji, Abdolhamid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9951407/ https://www.ncbi.nlm.nih.gov/pubmed/36829172 http://dx.doi.org/10.1186/s12920-023-01467-1

Ejemplares similares

Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome
por: Donovan, Katherine A, et al.
Publicado: (2018)

John Duane, Jr.
Publicado: (1895)

Growth Hormone Deficiency: Extending the Phenotypic Spectrum of SALL4-Related Disorders
por: Kodytková, Aneta, et al.
Publicado: (2021)

Narcolepsy Associated with Duane’s Syndrome
por: Butterworth, James W., et al.
Publicado: (2014)

Botulinum toxin injection in the patients with Duane syndrome type 1
por: Ameri, Ahmad, et al.
Publicado: (2016)

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
por: Liberalesso, Paulo Breno Noronha, et al.
Publicado: (2017)

Duane's clinical ophthalmology on CD-ROM
Publicado: (2003)

Surgical treatment of Duane retraction syndrome
por: Akbari, Mohammad Reza, et al.
Publicado: (2017)

Pearls and pitfalls in the management of Duane syndrome
por: Özkan, Seyhan B.
Publicado: (2017)

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum
por: Park, Joohyun, et al.
Publicado: (2019)

Bilateral inverse globe retraction (Duane′s) syndrome
por: Khan, Arif O
Publicado: (2007)

Inverse Duane′s retraction syndrome following myocysticercosis
por: Murthy, Ramesh
Publicado: (2008)

Is Duane retraction syndrome part of the VACTERL association?
por: Akar, Serpil, et al.
Publicado: (2013)

Respond to: Management of exotropic Duane retraction syndrome
por: Sharma, Pradeep, et al.
Publicado: (2015)

Duane retraction syndrome in a Nigerian child
por: Olawoye, Olusola Oluyinka, et al.
Publicado: (2014)

Management of Duane retraction syndrome with prismatic glasses
por: Aygit, Ebru Demet, et al.
Publicado: (2017)

Morphometry of the Oculomotor Nerve in Duane’s Retraction Syndrome
por: Kang, Min Seok, et al.
Publicado: (2020)

Duane Retraction Syndrome and Accompanying Ocular Abnormalities
por: Kocamaz, Murat, et al.
Publicado: (2019)

Association study between common variations in some candidate genes and prostate adenocarcinoma predisposition through multi-stage approach in Iranian population
por: Beikzadeh, Behnaz, et al.
Publicado: (2020)

Cytogenetic Studies in Primary Amenorrhoea Cases
por: Ghadirkhomi, Elham, et al.
Publicado: (2022)

A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome
por: Ma, Xiuli, et al.
Publicado: (2022)

Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome
por: Kothari, Mihir, et al.
Publicado: (2011)

Duane retraction syndrome: causes, effects and management strategies
por: Kekunnaya, Ramesh, et al.
Publicado: (2017)

Management of Duane retraction syndrome: A simplified approach
por: Gaur, Nripen, et al.
Publicado: (2019)

Diplopia in Cases With Type 1 Duane Retraction Syndrome
por: Birgul, Ramazan, et al.
Publicado: (2021)

Inverse Duane’s retraction syndrome – A case report
por: Murthy, Sowmya Raveendra, et al.
Publicado: (2022)

Duane retraction syndrome: Where and how is the abducens nerve?
por: Swaminathan, Meenakshi
Publicado: (2022)

SNP Scanning in mecA Gene for Methicillin-Resistant Staphylococcus aureus
por: Salehi, Mitra, et al.
Publicado: (2020)

Anephrogenic phenotype induced by SALL1 gene knockout in pigs
por: Watanabe, Masahito, et al.
Publicado: (2019)

Expanding the Phenotypic Spectrum of Olmsted Syndrome
por: Wilson, Neil J, et al.
Publicado: (2015)

Effects of Coenzyme Q10 and Diamond Nanoparticles on Ischemia-Reperfusion-Induced Testicular Damages in Rats
por: Masoumi, Masoumeh, et al.
Publicado: (2022)

A de novo nonsense mutation in the tyrosine kinase lyn in a patient with an early onset autoinflammatory phenotype
por: De Jesus, Adriana Almeida, et al.
Publicado: (2014)

Universidad La Salle.

Les salles propres
por: Whyte, William, et al.
Publicado: (2001)

Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome
por: Khan, Arif O., et al.
Publicado: (2011)

Congenital sixth nerve palsy or Type I Duane syndrome?
por: Agrawal, Siddharth, et al.
Publicado: (2011)

FIESTA Imaging for Problem-Solving in Early Duane's Retraction Syndrome
por: Peter, Prasant, et al.
Publicado: (2013)

Abducens Nerve in Patients with Type 3 Duane’s Retraction Syndrome
por: Yang, Hee Kyung, et al.
Publicado: (2016)

Modified Y-splitting Procedure for the Treatment of Duane Retraction Syndrome
por: Altıntaş, Ayşe Gül, et al.
Publicado: (2015)

Congenital inverse Duane's retraction syndrome: A rare presentation
por: Agarkar, Sumita, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_78ec0ciogv0vmcbgq0o87t1mee