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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.
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.
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 ...
Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and Werner syndrome show the most features of "accelerated aging". Hereditary nonpolyposis colorectal cancer (HNPCC) is very often caused by a defective MSH2 gene leading to defective mismatch repair , but displays no ...
Adrenoleukodystrophy; Other names: X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease, bronze Schilder disease: White matter, with reduced volume and increased signal intensity.
The ad includes other things that people with Down syndrome can do, such as swearing and having sex, and some people online have called it out with one user saying it is “crass.”
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome . [ 3 ] [ 4 ] [ 5 ] The disorder is marked by aneurysms in the aorta , often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta.