Lara El-bazzal

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).

A. Mégarbané, V. Delague, M. Obeid, 2019, European journal of medical genetics.

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.

A. Mégarbané, V. Delague, S. Bizzari, 2020, European journal of medical genetics.

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

A. Mégarbané, J. Desvignes, N. Lévy, 2019, Human molecular genetics.