Bronwyn Dillon
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View article: Exome sequencing identifies existing and novel variants in a South African cohort presenting with anterior segment dysgenesis
Exome sequencing identifies existing and novel variants in a South African cohort presenting with anterior segment dysgenesis Open
Anterior segment dysgenesis (ASD) defines a collection of congenital eye disorders that affect structures within the anterior segment of the eye. Mutations in genes that initiate and regulate the complex pathways involved in eye developmen…
View article: First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p
First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p Open
Background Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant genetic disorder manifesting as a result of haploinsufficiency of the GATA3 gene. GATA3 is…
View article: Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients Open
View article: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
STAC3 disorder: a common cause of congenital hypotonia in Southern African patients Open
View article: Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype Open
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of ∼1/3,000. It is characteriszed by numerous café-au-lait macules, skin freckl…
View article: The implementation and utility of clinical exome sequencing in a South African infant cohort
The implementation and utility of clinical exome sequencing in a South African infant cohort Open
Genetic disorders are significant contributors to infant hospitalization and mortality globally. The early diagnosis of these conditions in infants remains a considerable challenge. Clinical exome sequencing (CES) has shown to be a success…
View article: Endocrine profiling in patients with Fanconi anemia, homozygous for a <i>FANCG</i> founder mutation
Endocrine profiling in patients with Fanconi anemia, homozygous for a <i>FANCG</i> founder mutation Open
Background Fanconi anemia (FA) is phenotypically diverse, hereditary condition associated with bone marrow failure, multiple physical abnormalities, and an increased susceptibility to the development of malignancies. Less recognized manife…