Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes-Reference-Cited by-同舟云学术

Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

Published:2021-07-27 Issue:12 Volume:185 Page:3900-3904
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cesarato Nicole¹,Wehner Maria¹,Ghughunishvili Mariam²,Schmidt Axel¹,Axt Daisy¹,Thiele Holger³,Lentze Michael J.⁴,Has Cristina⁵,Geyer Matthias⁶,Basmanav Fitnat Buket¹^ORCID,Betz Regina C.¹^ORCID

Affiliation:

1. Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn Bonn Germany

2. Givi Zhvania Academic Clinic of Pediatrics, Tbilisi State Medical University Tbilisi Georgia

3. Cologne Center for Genomics, University of Cologne Cologne Germany

4. Department of Pediatrics University of Bonn, School of Medicine & University Hospital Bonn Bonn Germany

5. Department of Dermatology Medical Center ‐ University of Freiburg, Faculty of Medicine, University of Freiburg Freiburg Germany

6. Institute of Structural Biology, University of Bonn, School of Medicine Bonn Germany

Funder

Deutsche Forschungsgemeinschaft

German-Israeli Foundation for Scientific Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62438

Reference10 articles.

1. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

2. Congenital cataract with LSS gene mutations: a new case report

3. Human Splicing Finder: an online bioinformatics tool to predict splicing signals

4. Predicting Splicing from Primary Sequence with Deep Learning

5. A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family

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1. Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family;Journal of Cosmetic Dermatology;2024-08-16

2. Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic LSS variants;Frontiers in Neuroscience;2024-05-10

3. Expression Localization of the KRT32 Gene and Its Association of Genetic Variation with Wool Traits;Current Issues in Molecular Biology;2024-03-30

4. A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene;Molecular Genetics & Genomic Medicine;2023-11-10

5. Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics;European Journal of Medical Genetics;2023-10