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

Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3‐CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development of various dysmorphic features in significant number of patients,...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	American journal of medical genetics. Part A 2021-04, Vol.185 (4), p.1081-1090
Hauptverfasser:	Ben Ayed, Ikhlas, Ouarda, Wael, Frikha, Fakher, Kammoun, Fatma, Souissi, Amal, Ben Said, Mariem, Bouzid, Amal, Elloumi, Ines, Hamdani, Tarak M., Gharbi, Nourhene, Baklouti, Nesrine, Guirat, Manel, Mejdoub, Fatma, Kharrat, Najla, Boujelbene, Imene, Abdelhedi, Fatma, Belguith, Neila, Keskes, Leila, Gibriel, Abdullah Ahmed, Kamoun, Hassen, Triki, Chahnez, Alimi, Adel M., Masmoudi, Saber
Format:	Artikel
Sprache:	eng
Schlagworte:	3D structure modeling congenital disorders of glycosylation exome‐clinical sequencing facial recognition Glycosylation Pattern recognition Phenotypes polyprenol reductase
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!