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Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense mutations, insertions and deletions.
Craniosynostosis-fibular aplasia syndrome (also known as craniosynostosis with fibular aplasia or Lowry syndrome) is a rare syndrome characterized by bicoronal craniosynostosis, absent fibula, cryptorchidism, and bilateral simian creases.
Cobb syndrome; Cockayne syndrome; Coffin–Lowry syndrome; Coffin–Siris syndrome; Cogan syndrome; Cohen syndrome; Compartment syndrome; Complement deficiency; Complete androgen insensitivity syndrome; Complex regional pain syndrome; Computer vision syndrome; Conductive deafness-ptosis-skeletal anomalies syndrome; Congenital bilateral ...
We have different kinds of “rotary traffic islands,” including neighborhood traffic calming circles, mini roundabouts, single-lane roundabouts, and multi-lane roundabouts.
Most Washington drivers using roundabouts don’t signal at all when exiting.
A large-scale screen of the Drosophila genome for mutants that exhibited axon guidance defects led to the discovery of the roundabout (robo) mutation. [9] In robo mutants, axons were observed to inappropriately cross and recross the midline. It was subsequently found that the secreted protein Slit was the ligand for the Roundabout receptor. [10]
MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women. ARX: Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed ...
The Hotel Indonesia Roundabout in Jakarta, Indonesia A roundabout in Kent, UK on the A13 highway near Sadlers Farm. A roundabout, a rotary and a traffic circle are types of circular intersection or junction in which road traffic is permitted to flow in one direction around a central island, and priority is typically given to traffic already in the junction.