Rebecca Mawby

2PUBLICATIONS
1CO-AUTHORS
Infant and child healthVision science
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Publications (2)

|Mar 24, 2026
Finding the Genetic Diagnosis for a Mother and Daughter With a Novel Phenotype of Hand and Foot Abnormalities and Severe Pectus Excavatum Previously Reported in Am J Med Genet Part A by Low K et al. (2013).

Rebecca Mawby, Mira Kharbanda

|Nov 17, 2021
A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.

Gabriella Gazdagh, Rebecca Mawby, Jay E Self

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Gabriella Gazdagh