Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1-Reference-Cited by-同舟云学术

Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1

Published:2023-05-29 Issue:1 Volume:45 Page:95-102
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Grudzinska Pechhacker Monika K¹²^ORCID,Molnar Anna¹²,Pekkola Pacheco Nadja³⁴,Thonberg Håkan³⁴,Querat Laurence¹²,Birkeldh Ulrika¹²,Nordgren Ann³⁴,Lindstrand Anna³^ORCID

Affiliation:

1. Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden

2. Department of Pediatric Ophthalmology, Strabismus and Electrophysiology, St. Erik Eye Hospital, Stockholm, Sweden

3. Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

4. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

Funder

Karolinska Institutet

Carmen och Bertil Regners Stiftelse for Research in Eye Diseases

Kronprinsessan Margaretas Arbetsnämnd för synskadade KMA

Swedish Research Council

Swedish Brain Foundation

Her Majesty the Quenn Silvia’s Jubilee Fund

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2215332

Reference50 articles.

1. Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis

2. Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations

3. Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population

4. The morbid genome of ciliopathies: an update

5. Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX

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1. Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1‐related ciliopathy spectrum;American Journal of Medical Genetics Part A;2024-06-25