SRD5A3‐CDG : 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition-Reference-Cited by-同舟云学术

SRD5A3‐CDG : 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition

Published:2021-01-06 Issue:4 Volume:185 Page:1081-1090
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ben Ayed Ikhlas¹²³^ORCID,Ouarda Wael⁴,Frikha Fakher⁵,Kammoun Fatma⁶⁷,Souissi Amal¹,Ben Said Mariem¹,Bouzid Amal¹,Elloumi Ines¹,Hamdani Tarak M.⁴,Gharbi Nourhene²³,Baklouti Nesrine⁴,Guirat Manel²,Mejdoub Fatma²,Kharrat Najla¹,Boujelbene Imene²³,Abdelhedi Fatma²³,Belguith Neila³⁸⁹,Keskes Leila³⁸,Gibriel Abdullah Ahmed¹⁰,Kamoun Hassen²³,Triki Chahnez⁶⁷,Alimi Adel M.⁴,Masmoudi Saber¹

Affiliation:

1. Laboratory of Molecular and Cellular Screening Processes (LPCMC) LR15CBS07, Center of Biotechnology of Sfax, University of Sfax Sfax Tunisia

2. Medical Genetic Department Hedi Chaker Hospital Sfax Tunisia

3. Faculty of Medicine of Sfax University of Sfax Sfax Tunisia

4. ReGIM‐Lab, Research Groups in Intelligent Machines LR11ES48, National School of Engineers of Sfax Sfax Tunisia

5. Faculty of Sciences of Sfax (FSS) University of Sfax Sfax Tunisia

6. Child Neurology Department Hedi Chaker Hospital Sfax Tunisia

7. Research Laboratory "Neuropédiatrie" LR19ES15, Sfax University Sfax Tunisia

8. Laboratory of Human Molecular Genetics (LGMH), Faculty of Medicine of Sfax University of Sfax Sfax Tunisia

9. Department of Congenital and Hereditary Diseases Charles Nicolle Hospital Tunis Tunisia

10. Biochemistry and Molecular Biology Department, Faculty of Pharmacy The British University in Egypt (BUE) Cairo Egypt

Funder

Ministère de l'Education Nationale, de l'Enseignement Superieur et de la Recherche

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62065

Reference37 articles.

1. A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

2. A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

3. Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs

4. PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

5. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

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