A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye-Reference-Cited by-同舟云学术

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A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye

Published:2020-01-08 Issue:4 Volume:182 Page:730-734
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Pölsler Laura¹^ORCID,Schatz Ulrich A.¹²,Simma Burkhard³,Zschocke Johannes¹,Rudnik‐Schöneborn Sabine¹

Affiliation:

1. Institute of Human Genetics, Medical University Innsbruck Innsbruck Austria

2. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich Munich Germany

3. Department of Pediatrics and Adolescent MedicineAcademic Teaching Hospital LKH Feldkirch Feldkich Austria

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61478

Reference23 articles.

1. Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

2. A Novel and Highly Conserved Collagen (proα1(XXVII)) with a Unique Expression Pattern and Unusual Molecular Characteristics Establishes a New Clade within the Vertebrate Fibrillar Collagen Family

3. Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts

4. The Fibrillar Collagen Family

5. Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review

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1. Dislocation of the Radial Head;Smith's Recognizable Patterns of Human Deformation;2025

2. Type XXVII collagen;Biochemistry of Collagens, Laminins and Elastin;2024

3. Pyroptosis-related gene-based prognostic signature for predicting the overall survival of oral squamous cell carcinoma patients;Frontiers in Surgery;2022-08-19

4. Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles;European Journal of Medical Genetics;2022-06

5. Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome;Human Genome Variation;2021-05-07

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