<i>TTC5</i> syndrome: Clinical and molecular spectrum of a severe and recognizable condition-Reference-Cited by-同舟云学术

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

Published:2022-06-07 Issue:9 Volume:188 Page:2652-2665
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Musante Luciana¹^ORCID,Faletra Flavio¹^ORCID,Meier Kolja²,Tomoum Hoda³^ORCID,Najarzadeh Torbati Paria⁴^ORCID,Blair Edward⁵,North Sally⁵,Gärtner Jutta²^ORCID,Diegmann Susann²^ORCID,Beiraghi Toosi Mehran⁶^ORCID,Ashrafzadeh Farah⁷^ORCID,Ghayoor Karimiani Ehsan⁴⁸⁹^ORCID,Murphy David¹⁰^ORCID,Murru Flora Maria¹^ORCID,Zanus Caterina¹^ORCID,Magnolato Andrea¹^ORCID,La Bianca Martina¹,Feresin Agnese¹¹^ORCID,Girotto Giorgia¹¹¹^ORCID,Gasparini Paolo¹¹¹^ORCID,Costa Paola¹^ORCID,Carrozzi Marco¹^ORCID

Affiliation:

1. Institute for Maternal and Child Health ‐ IRCCS “Burlo Garofolo” Trieste Italy

2. Department of Pediatrics and Adolescent Medicine University Medical Center Göttingen Göttingen Germany

3. Department of Pediatrics Ain Shams University Cairo Egypt

4. Department of Molecular Genetics Next Generation Genetic Polyclinic Mashhad Iran

5. Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust Oxford UK

6. Pediatric Neurology Department, Ghaem Hospital Mashhad University of Medical Sciences Mashhad Iran

7. Department of Pediatrics, Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran

8. Molecular and Clinical Sciences Institute St. George's, University of London London UK

9. Innovative Medical Research Center, Mashhad Branch Islamic Azad University Mashhad Iran

10. Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology University College London London UK

11. Department of Medical, Surgical and Health Sciences University of Trieste Trieste Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62852

Reference41 articles.

1. STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies

2. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

3. Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

4. Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

5. Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

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