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1,118 Possible Causes for Mutation in the COL9A3 Gene, shaken

  • Retinal Hemorrhage

    Abstract Shaken baby syndrome consists of intracranial and intraocular hemorrhage in the absence of signs of direct trauma in infants who have sustained whiplash/shaking injuries[ncbi.nlm.nih.gov] Technology Assessment and Assessment of Social Services (SBU) report on traumatic shaking Facts & Info Medical Consensus Research FAQs Guest Commentary Contact National Center on Shaken[dontshake.org] ,” and later “shaken baby” syndrome.[westjem.com]

    Missing: Mutation in the COL9A3 Gene
  • Head Injury

    Neurometabolic work up and imaging studies for uncontrolled seizures revealed non-accidental head injury (shaken baby syndrome) as the underlying cause.[ncbi.nlm.nih.gov] The head may be hit by a moving object, may strike a stationary object or be shaken violently.[mass.gov] Sexuality - Links to information and resources Shaken Baby : Information and resources concerning this major health risk.[headinjury.com]

    Missing: Mutation in the COL9A3 Gene
  • Whiplash Injury

    […] tissue hyperextension- flexion injury after a trauma such as a rear end impact car crash, contact sport injuries, blows to the head from a falling object or a punch and shaken[ncbi.nlm.nih.gov] He was quite shaken and a colleague advised him to seek medical advice. He went to his GP but later attended a specialist and a physiotherapy clinic.[irishexaminer.com] […] soccer intentional assaults that produce head trauma (a hard shove from behind, for example) skiing and snowboarding accidents repetitive stress injuries at work child abuse (shaken[nolo.com]

    Missing: Mutation in the COL9A3 Gene
  • Stickler Syndrome Type 5

    Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene.[moh-it.pure.elsevier.com] Up to this time, only heterozygous mutations of COL9A3 gene have been reported in human and related to: (1) multiple epiphyseal dysplasia type 3, (2) susceptibility to an[ncbi.nlm.nih.gov] […] in the COL9A3 gene. ( 24273071 ) Faletra F....Gasparini P. 2014 5 A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. ( 21671392[malacards.org]

    Missing: shaken
  • Infantile Colic

    Joint statement on Shaken Baby Syndrome. Paediatrics & Child Health, 6 (9), 663–667. Google Scholar 15. Savino, F., et al. (2006).[dx.doi.org] In worst case, the infants' crying may also lead to violence and 'shaken baby syndrome'.[clinicaltrials.gov] Shaken Baby Syndrome: Rotational cranial injuries—Technical report. Pediatrics, 108 (1), 206–210. CrossRef Google Scholar 14. Canadian Pediatric Society. (2001).[dx.doi.org]

    Missing: Mutation in the COL9A3 Gene
  • Viral Lower Respiratory Infection

    Reagent solution is added to the provided extraction tube, which is then shaken to dissolve the contents.[mja.com.au]

    Missing: Mutation in the COL9A3 Gene
  • Acute Alcohol Intoxication

    If the test tube is shaken the whole mixture becomes deep blue.[jpma.org.pk] Affliction and adversity befell them, they were shaken as with earthquake, till the messenger (of Allah) and those who believed along with him said: When cometh Allah's help[web.archive.org] […] they encountered suffering and adversity, and were so shaken in spirit that even the Messenger and those of faith who were with him cried: "When (will come) the help of Allah[web.archive.org]

    Missing: Mutation in the COL9A3 Gene
  • Brain Concussion

    Although concussions are usually caused by a blow to the head, they can also occur when the head and upper body are violently shaken.[noranclinic.com] Concussions can also occur when the head and upper body are shaken violently. Recovery times can vary greatly.[brainline.org] Common causes include falls, car or motorcycle crashes, sports injuries, and rapid back-and-forth forces such as shaken baby syndrome or nearby battlefield explosions.[mayfieldclinic.com]

    Missing: Mutation in the COL9A3 Gene
  • Traumatic Brain Injury

    Shaken baby syndrome injuries are the result of violent trauma.[pediatrics.aappublications.org] Abstract Shaken baby syndrome is a serious and clearly definable form of child abuse.[pediatrics.aappublications.org] A shaken infant may suffer only moderate ocular or cerebral trauma.[pediatrics.aappublications.org]

    Missing: Mutation in the COL9A3 Gene
  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    […] with mutations in the MATN3 , COL9A1 , COL9A2 or COL9A3 genes.[analesdepediatria.org] S Sarcoma, granulocytic (chloroma) 128 SBS (shaken baby syndrome) 222 Schwannoma 116 Sclera 5 Scleritis, posterior 202 Screening see vision screening SEDC (spondyloepiphyseal[alpfmedical.info] Although most cases of MED result from COMP mutations, five cases were caused by mutations of COL9A2 , located at 1p33-p32.2, or COL9A3 , located at 20q13.3.[ommbid.mhmedical.com]

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