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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.
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]
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
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Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common (but not rare) features include coxa vara and retinitis pigmentosa. Only 10 cases of ...
This syndrome is most commonly diagnosed when the two or more individuals of concern live in proximity, may be socially or physically isolated, and have little interaction with other people. Various sub-classifications of folie à deux have been proposed to describe how the delusional belief comes to be held by more than one person: [8] Folie ...
Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves.