Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation

Author:

Choucair Nancy1,Rajab Mariam2,Mégarbané André3ORCID,Chouery Eliane1

Affiliation:

1. Unité de Génétique Médicale, Faculté de Médecine; Université Saint-Joseph; Beirut Lebanon

2. Department of Pediatrics; Makassed General Hospital; Beirut Lebanon

3. Institut Jérôme Lejeune; Paris France

Funder

Saint Joseph University

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing;Ansel;Nature Structural and Molecular Biology,2008

2. Partial trisomy 13 and partial monosomy 8 mosaicism secondary to an unbalanced de novo translocation: Highlighting an uncommon chromosomal abnormality;Baranello;Journal of Child Neurology,2013

3. Congenital malformations;Corsello;Journal of Maternal-Fetal and Neonatal Medicine,2012

4. Deletion 8p syndrome;Digilio;American Journal of Medical Genetics,1998

5. MASL1: A neglected ROCO protein;Dihanich;Biochemical Society Transactions,2012

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