Leïla Ghesh
0000-0003-0540-5579
3 papers found
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The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature
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