Article
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
European journal of medical genetics - 1 Mar 2019
Imbert-Bouteille Marion, Mau Them Frédéric Tran, Thevenon Julien, Guignard Thomas, Gatinois Vincent, Riviere Jean-Baptiste, Boland Anne, Meyer Vincent, Deleuze Jean-François, Sanchez Elodie, Apparailly Florence, Geneviève David, Willems Marjolaine
Abstract excerpt
Alazami syndrome (AS) (MIM# 615071) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome...
Topics
- Child
- Dwarfism
- Female
- Humans
- Intellectual Disability
- Loss of Function Mutation
- Microcephaly
- Phenotype
- Ribonucleoproteins
- Siblings