Publications by authors named "Ahad Alharthi"
Article Synopsis
- Epidermolysis bullosa (EB) is a genetic skin disorder that causes blistering due to minor trauma and can be inherited in autosomal dominant or recessive patterns, with three main types: dystrophic EB (DEB), junctional EB (JEB), and EB simplex (EBS).
- A study of 28 Saudi patients revealed that DEB was the most common type (42.9%), followed by JEB (21.4%) and EBS (35.7%), with molecular analysis uncovering 24 genetic variations, including 14 novel mutations.
- The results highlighted a high occurrence of homozygous mutations, primarily due to consanguineous marriages, and suggested the need for a nationwide EB
Background Congenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. CHDs are more common among children with dysmorphic syndromes. The current study aims to estimate the prevalence of many CHDs in different dysmorphic syndromes.
View Article and Find Full Text PDF