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6,226 Possible Causes for All Reported Mutations Have Occurred De Novo, Mutation in the SRY-Box 2 Gene, Pediatric Disorder

  • Acute Gastroenteritis

    Seventy children with acute gastroenteritis and their parents completed the Rome III Diagnostic Questionnaire for Pediatric Functional GI Disorders and the Children's Somatization[ncbi.nlm.nih.gov] Rotavirus gastroenteritis: precursor of functional gastrointestinal disorders?. J Pediatr Gastroenterol Nutr. 2009 Nov. 49(5):580-3. [Medline].[emedicine.medscape.com]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the SRY-Box 2 Gene
  • Pallister-Hall Syndrome

    Explore the impact of today’s advances and challenges, including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric[books.google.com] Gene Name SOX2 (SRY (sex determining region Y)-box 2) Location 3q26.33 Note A single patient showing a SOX2 heterozygous mutation and presenting with hypothalamic hamartoma[atlasgeneticsoncology.org] Intended as a quick reference guide to the better known and some less familiar syndromes of neurological interest and developed by a renowned pediatric neurologist with more[books.google.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Vitamin D Deficiency

    Hypocalcemic and hypercalcemic disorders in children. Current Problems in Pediatrics, Vol. 19, Issue. 10, p. 497. CrossRef Google Scholar Poskitt, E.M.E. 1988.[doi.org]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the SRY-Box 2 Gene
  • Acute Alcohol Intoxication

    Psychiatry Association Text Revision Estimated blood alcohol concentrations for child and adolescent drinking and their implications for screening instruments, Pediatrics[academic.oup.com] The inactive ALDH2(2) allele is dominant, J Clin Invest, 1989, vol. 83 (pg. 314 - 6 ) Diagnostic and Statistical Manual of Mental Disorders, 2000 4th ed Washington, DC American[academic.oup.com]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the SRY-Box 2 Gene
  • Cerebro-Costo-Mandibular Syndrome

    A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[link.springer.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] TIS is a disorder where severe problems in how the chest, spine, and ribs are formed prevent normal breathing and lung development.[rarediseases.org]

    Missing: Mutation in the SRY-Box 2 Gene
  • Constipation

    Mousa, The value of fluoroscopic defecography in the diagnostic and therapeutic management of defecation disorders in children, Pediatric Radiology, 45, 2, (173), (2015).[doi.org] Major symptoms and signs of digestive tract disorders. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed.[nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the SRY-Box 2 Gene
  • Anemia

    One of the most common pediatric disorders, anemia has many potential causes. Anemia is often a symptom of a disease rather than a disease itself.[childrenshospital.org] In addition to an experienced, compassionate nurse coordinator (who provides your child and family support, education and care coordination), Nemours’ pediatric blood disorder[nemours.org] How can I manage anemia if my child has an inherited red blood cell disorder?[healthychildren.org]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the SRY-Box 2 Gene
  • Urinary Tract Infection

    Abstract Urinary tract infections (UTIs) are among the most common bacterial infections acquired in the community and in hospitals. In individuals without anatomical or functional abnormalities, UTIs are generally self limiting, but have a propensity to recur. Uropathogens have specialized characteristics, such as the[…][oadoi.org]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the SRY-Box 2 Gene
  • Depression

    [Pediatr Ann. 2018;47(7):e261-e265.]. Copyright 2018, SLACK Incorporated.[ncbi.nlm.nih.gov] This includes serious adult psychiatric illnesses such as major depressive disorder, anxiety disorders, and substance abuse.[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the SRY-Box 2 Gene
  • Acne Vulgaris

    Tollefson, Endocrine disorders and hormonal therapy for adolescent acne, Current Opinion in Pediatrics, 10.1097/MOP.0000000000000515, 29, 4, (455-465), (2017).[doi.org] Consensus statement on management of intersex disorders. J Pediatr Urol 2006 ; 2: 148 62 Google Scholar Crossref Medline 55. Hughes, IA.[doi.org] Read More Pediatric Dermatology Corrective Camouflage in Pediatric Dermatology Author: Tedeschi A Dall'oglio F Micali G Schwartz RA Janniger CK Many dermatologic diseases,[mdedge.com]

    Missing: All Reported Mutations Have Occurred De Novo Mutation in the SRY-Box 2 Gene