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Results 1 - 7 of 7 for Gap 27
  1. Pelizaeus-Merzbacher-like disease type 1 
    ... SS, Abrams CK. Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins. J Neurosci. 2007 Dec 19;27(51):13949-57. doi: 10.1523/JNEUROSCI.3395- ...
    https://medlineplus.gov/.../pelizaeus-merzbacher-like-disease-type-1 - Genetics
  2. Vohwinkel syndrome 
    ... gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin ... connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged ...
    https://medlineplus.gov/genetics/condition/vohwinkel-syndrome - Genetics
  3. Oculodentodigital dysplasia 
    ... forms one part (a subunit) of channels called gap junctions, which allow direct communication between cells. Gap junctions formed by connexin 43 proteins are found ...
    https://medlineplus.gov/.../condition/oculodentodigital-dysplasia - Genetics
  4. Loeys-Dietz syndrome 
    ... spontaneous pneumothorax) or a protrusion of organs through gaps in muscles (hernias). Other characteristic features include widely ... 10.1038/ejhg.2011.68. Epub 2011 Apr 27. No abstract available. Citation on PubMed or Free ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  5. Aicardi syndrome 
    ... small or poorly developed eyes (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a ... Aicardi J. Aicardi syndrome. Brain Dev. 2005 Apr;27(3):164-71. doi: 10.1016/j.braindev. ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  6. Joubert syndrome 
    ... cause vision loss, and coloboma, which is a gap or split in a structure of the eye), ... 15; JBTS15 JOUBERT SYNDROME 16; JBTS16 JOUBERT SYNDROME 27; JBTS27 JOUBERT SYNDROME 28; JBTS28 JOUBERT SYNDROME 13; ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  7. Schinzel-Giedion syndrome 
    ... have other distinctive features, including larger than normal gaps between the bones of the skull in infants ( ... syndrome and hematologic malignancies. PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen. ...
    https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome - Genetics