Results: We report the clinical features of five patients with a BP4–BP5 deletion, three with a BP4–BP5 duplication, and two with an overlapping but smaller duplication identified by whole genome high ...

His gag reflex was intact, and there were no concerns regarding chewing, swallowing, coughing, gagging or choking. The examination also revealed several dysmorphic features, including mild ptosis, a ...

The general physical examination should determine whether there are any dysmorphic features and the general health of the baby. A number of syndromes are associated with ambiguous genitalia, for ...

Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies ...

The development of multicellular organisms and the maintenance of homeostasis in adulthood are achieved by complex control of basic cellular processes such as the maintenance of pluripotent stem cells ...

Fatima and Harry find out about the main features of a castle - including the moat, drawbridge, battlements, thick walls, towers, etc. Fatima: So I've seen lots of castles in books and on the ...

Down syndrome (DS) is the most common genetic syndrome associated with immune defects. The extent of immune dysregulation in DS is substantial, spanning the innate and adaptive systems and including ...