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  1. 31601
    “…CASE PRESENTATION: We report the case of a six-month old girl with hematologic abnormalities and asplenia documented in imaging, with Howell-Jolly bodies in peripheral blood smear. …”
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    Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
  2. 31602
    “…In this study, we report a seven-year-old Murut girl with unusual features of Williams-Beuren syndrome (WBS), including recurrent infections and skin abscesses. …”
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    Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing
  3. 31603
    “…In the majority of KS patients who present with hypoglycemia, KDM6A is the defective gene. A 9-month old girl was admitted to our emergency department due to a seizure. …”
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    A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
  4. 31604
    “…CASE DESCRIPTION: A 16-year-old girl presented with transient left upper and lower limb numbness and headache. …”
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    Limb-shaking syndrome derived from the contralateral hemisphere following unilateral revascularisation for moyamoya disease
  5. 31605
    “…With appropriate medications, the patient was safely monitored through the remainder of her pregnancy and safely delivered at 36 weeks of pregnancy a healthy baby girl. The daughter, heterozygous for LQT3, showed no evidence of intrauterine growth restriction or other side effects from the medications. …”
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    Peripartum management of patient with long QT3 after successful implantable cardioverter defibrillator device discharge resulting in device failure: a case report
  6. 31606
    “…CASE PRESENTATION: An 8-year-old girl presented with nephrotic syndrome, without epilepsy or developmental delay. …”
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    A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report
  7. 31607
    “…Materials and Methods: A 22-year-old girl suffering from cleidocranial dysplasia with short stature, narrow shoulders, craniofacial manifestations (short face, broad forehead, etc.) and dental anomalies (different lower dental elements under eruption, supernumerary and impacted multiple teeth, etc.) was examined at our service (Complex Operative Unit of Odontostomatology of Policlinico of Bari). …”
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    Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report
  8. 31608
    “…CASE PRESENTATION: We present a unique case of a 5-year-old girl with KD associated giant CAAs suffering from myocardial ischemia due to acute progressive thrombus growth despite intensive anticoagulation treatment (acetylsalicylic acid, acenocoumarol and clopidogrel) after 21 months of onset of disease. …”
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    Myocardial infarction due to thrombotic occlusion despite anticoagulation in Kawasaki disease – a case report
  9. 31609
    “…SUMMARY: We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). …”
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    Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus
  10. 31610
    “…Following a correct diagnosis of CAH, she was given glucocorticoid treatment, her menstruation became more regular, and she became pregnant and delivered a healthy baby girl. CONCLUSIONS: The genotypes may be p.I173N homozygous or p.I173N/c.1451-1452delGGinsC heterozygous, both mutations could be pathogenic. …”
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    Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report
  11. 31611
    “…CASE PRESENTATION: We herein report an 11-year-old girl with a history of incomplete KD without coronary arterial aneurysms. …”
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    Case Report: Structural Changes in the Coronary Vessel Wall in a Patient With Incomplete Kawasaki Disease
  12. 31612
    “…CASE PRESENTATION: Here, we present a case of a 9-year-old girl who was diagnosed with relapsing polychondritis, with severe airway involvement requiring a tracheostomy. …”
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    Case Report: Lessons Learned From Subsequent Autologous and Allogeneic Hematopoietic Stem Cell Transplantations in a Pediatric Patient With Relapsing Polychondritis
  13. 31613
    “…CASE PRESENTATION: A 7-year-old girl with congenital immunodeficiency was referred to the intensive care (ICU) unit with acute respiratory distress syndrome. …”
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    Lethal hemorrhagic necrotizing pancreatitis in a child with congenital immunodeficiency and COVID-19
  14. 31614
    por Kolla, Bharathi, Kalra, Pramila
    Publicado 2022
    “…A 2-month-old baby girl (DOB 11/6/21) was diagnosed to have diabetes and was referred for further management. …”
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    D2 MTE4 Case 12: A case of neonatal diabetes…
  15. 31615
    por Aishwarya, Pingley
    Publicado 2022
    “…We present a case of a 16-year-old girl, a known case of pulmonary Koch’s taking anti-Koch’s treatment, admitted with hydropneumothorax, who was posted for left lung decortication. …”
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    Surprise evidence of a bronchial rent in a case of pulmonary Koch’s posted for lung decortication using the one-lung ventilation protocol
  16. 31616
    “…Here, we aimed to investigate the genetic defects of the TRPM6 gene found in a girl from China. METHODS: The genomic DNA of the proband and the parents was extracted for whole-exome sequencing. …”
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    Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) in TRPM6 Cause Primary Homagnesemia With Secondary Hocalcemia
  17. 31617
    “…Here we describe the case of a 7-year-old girl who presented with seizures due to an extra-axial tumor in the left parietal convexity. …”
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    Clinicopathological and Genomic Features of Pediatric Intracranial Myxoid Mesenchymal Tumor with both of EWSR1-CREM Gene Fusion and MAP3K13 Mutation: A Case Report and Comparison with Adult Cases in the Literature
  18. 31618
    “…We report the case of a 3-year-old girl admitted to her town emergency department for fever (39°C) associated with diarrhea, generalized edema, oliguria, and drowsiness. …”
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    Glucose Control in Post-hemolytic-Uremic Syndrome Diabetes: A New Approach Offered by Sensor-Augmented Pump Therapy
  19. 31619
    “…Ultimately, a healthy girl who had not carried disease-causing variants of SCID-X1 confirmed by prenatal diagnosis was born, further verifying our successful application of PGT in preventing mutated allele transmission for this SCID family.…”
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    Case Report: Preimplantation Genetic Testing for X-Linked Severe Combined Immune Deficiency Caused by IL2RG Gene Variant
  20. 31620
    “…CASE PRESENTATION: A fourteen-year-old Tibetan girl presented with progressive headache with haematuria, facial swelling, dizziness and vomiting for 2 weeks as well as multiple episodes of tonic–clonic seizures for 14 h. …”
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    Posterior reversible encephalopathy syndrome secondary to acute post-streptococcal glomerulonephritis in a child: a case report from the Tibetan plateau
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