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12 Possible Causes for All Reported Mutations Have Occurred De Novo, Obesity, Pediatric Disorder

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  • Hypopituitarism

    Gastric bypass surgery has been reported to be an efficient treatment strategy for morbid hypothalamic obesity.[ncbi.nlm.nih.gov] Bode HH: Disorders of posterior pituitary; in Kaplan SA (ed): Clinical Pediatric Endocrinology. Philadelphia, Saunders, 1990, pp 63–86.[dx.doi.org] All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org]

  • Cerebro-Costo-Mandibular Syndrome

    , polydactyly, and intellectual disabilities) 759.89 Barth 759.89 basal cell nevus 759.89 Beckwith (-Wiedemann) 759.89 Biedl-Bardet (obesity, polydactyly, and intellectual[icd9data.com] 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]

  • GOMBO Syndrome

    Guest Editor: Edgard Delvin Pediatric obesity and cardiometabolic disorders: risk factors and biomarkers. E. Levy, A.K. Saenger, M.W. Steffes, E.[infobioquimica.com] All reported mutations have occurred as new (sporadic or de novo ) mutations, which means that in these cases the gene mutation has occurred at the time of the formation of[rarediseases.org] Kovács Recent advances in pediatric laboratory medicine. Guest Editor: Edgard Delvin Pediatric obesity and cardiometabolic disorders: risk factors and biomarkers. E.[infobioquimica.com]

  • Helsmoortel-van der Aa Syndrome

    Key features are childhood obesity, blindness and deafness.[diapedia.org] Curr Opin Pediatr 14(6):678-83, 2002. 57. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-9, 2007. 58. Greenberg F.[siicsalud.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]

  • Optic Atrophy

    ., pituitary adenoma, optic nerve meningioma) Aneurysm Hydrocephalus Pseudotumor cerebri (PTC): idiopathic elevated ICP, often in obese young females Cortical venous sinus[unboundmedicine.com] George's Healthcare NHS Trust, London, UK. 17 VMP Genetics, LLC, Atlanta, Georgia, USA. 18 University of Georgia, Athens, Georgia, USA. 19 Center for Rare Childhood Disorders[ncbi.nlm.nih.gov] Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov]

  • Geleophysic Dysplasia

    , polydactyly, and intellectual disabilities) 759.89 Barth 759.89 basal cell nevus 759.89 Beckwith (-Wiedemann) 759.89 Biedl-Bardet (obesity, polydactyly, and intellectual[icd9data.com] Diagnosis of this disorder is based on clinical and radiographic criteria. Until now only 60 cases have been reported in the literature.[bone-abstracts.org] All reported mutations have occurred as new (sporadic or de novo ) mutations, which means that in these cases the gene mutation has occurred at the time of the formation of[rarediseases.org]

  • Anophthalmia - Microphthalmia Syndrome

    . – SC phocomelia syndrome: caused by ESCO2 mutations – MOMO syndrome: MOMO stays for macrosomia, obesity, macrocephaly, ocular abnormalities.[bredagenetics.com] Strongly associated with chromosome abnormalities and single-gene disorders. Karyotype is indicated.[mhmedical.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

  • Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

    […] disruptors, bariatric surgery, androgen deficiency, genetic causes of obesity, endocrine rhythms, and the use of tyrosine kinase inhibitors in thyroid cancer.[books.google.com] Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine[imedpub.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    […] anomaly of Hydrocéphalie palatine slit articular stiffness Hydrocéphalie fibroélastoses cataract Large Hydrocéphalie cuts hyperlaxity Hydrocéphalie related to X Hydrocéphalie obesity[wikipedia.qwika.com] Familial juvenile nephronophtisis, Jeune’s syndrome, and associated disorders.[dergipark.ulakbim.gov.tr] reported mutations have occurred de novo MOLECULAR BASIS: Caused by mutation in the nonselective sodium leak channel gene (NALCN, 611549.0004) Description The large number[findzebra.com]

  • Autosomal Dominant Non-Syndromic Mental Retardation

    Key features are childhood obesity, blindness and deafness.[diapedia.org] Curr Opin Pediatr 14(6):678-83, 2002. 57. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-9, 2007. 58. Greenberg F.[siicsalud.com] Almost all reported cases have occurred de novo.[bredagenetics.com]

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