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  1. 30581
    “…PATIENT CONCERNS: An eleven-year-old girl, a known case of PID, was referred to the pediatric cardiology department because of chest pain and dyspnea. …”
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    EBV lymphoproliferative-associated disease and primary cardiac T-cell lymphoma in a STK4 deficient patient: A case report
  2. 30582
    “…The second patient was a 3-month-old girl having a V-shaped partial superior cleft with lung herniation. …”
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    Reconstruction of Congenital Sternal Clefts: Surgical Experience and Literature Review
  3. 30583
    “…In the clinical IVF-PGD case, delivery of a healthy baby girl was achieved after transfer of an expansion-negative blastocyst. …”
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    FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome
  4. 30584
    “…PATIENT CONCERNS: A 2-year-old girl, previously well and with no significant medical history or family history of other diseases, presented with a 2-week painless swelling of the right orbit. …”
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    Low-grade myofibroblastic sarcoma of the orbit: A case report and literature review
  5. 30585
    “…We present the case of a 7-year-old Pakistani girl. She presented with acute, severe, progressive, right-sided abdominal pain, which was present for 12 hours before presentation. …”
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    Pediatric case of acute right-sided abdominal pain: diagnosis is not always appendicitis
  6. 30586
    “…One fetus without the missense variant was confirmed to be a healthy girl in a follow-up visit 1 month following birth.…”
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    Two novel variants of the PHEX gene in patients with X-linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families
  7. 30587
    “…A 10-year-old girl manifested persistent fever, skin rash, leg pain, fatigue, and joint pain. …”
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    Effect of Adalimumab on Refractory Arthritis in Juvenile Idiopathic Inflammatory Myopathy with Anti-MDA5 Autoantibody
  8. 30588
    “…Case report  An 8-year-old girl with severe sternum depression was assessed. …”
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    Nuss Procedure for a Patient with Negative Haller Index
  9. 30589
    “…Here, we report a case of an urgent, successful management of severe orofacial dyskinesia in an 8-year-old girl with anti-NMDAR encephalitis using BoNT-A injection. …”
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    Management of Refractory Orofacial Dyskinesia Caused by Anti-N-methyl-d-aspartate Receptor Encephalitis Using Botulinum Toxin
  10. 30590
    “…We present a case report of a 3-year-old girl with pulmonary IMT and a brief review of known literature cases in order to highlight the most common clinical presentations, the most useful diagnostic tools and therapeutic approach.…”
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    Pulmonary Inflammatory Myofibroblastic Tumor in Children: A Case Report and Brief Review of Literature
  11. 30591
    “…PATIENT CONCERNS: A previously healthy immunocompetent 9-year-old girl first presented with seizures, headaches and vomiting. …”
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    Anti-N-methyl-d-aspartate receptor encephalitis associated with acute Toxoplasma gondii infection: A case report
  12. 30592
    “…The proband, a 2-year-old girl, was referred due to marked hypertrichosis, noticed soon after birth, associated with coarsening of her facial appearance. …”
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    Cantú syndrome with coexisting familial pituitary adenoma
  13. 30593
    “…Here we present the long-term anatomical and visual outcomes of bilateral asymmetric rhegmatogenous retinal detachment repair in a patient with Stickler syndrome. A 17-year-old girl presented with decreased visual acuity in both eyes for more than one year. …”
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    Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome
  14. 30594
    “…A genetic basis for AVMs is suspected, and we investigated potential mutations in a 14-year-old girl who developed a recurrent brain AVM. Whole-exome sequencing (WES) of AVM lesion tissue and blood was performed accompanied by in silico modeling, protein expression observation in lesion tissue and zebrafish modeling. …”
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    Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing
  15. 30595
    “…CASE PRESENTATION: A 3-day-old Hispanic baby girl presented with severe microcephaly of 24 cm and temperature instability at birth. …”
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    Ocular abnormalities in congenital Zika syndrome: a case report, and review of the literature
  16. 30596
    “…CASE REPORT: We present the case of a 17-year-old Indian girl with fever, severe headache, and right 6(th) cranial nerve palsy. …”
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    Role of Immuno-Polymerase Chain Reaction (I-PCR) in Resolving Diagnostic Dilemma Between Tuberculoma and Neurocysticercosis: A Case Report
  17. 30597
    “…CASE PRESENTATION: A 9-year, 7-month-old Japanese girl was referred to our facility with obvious deformity of her right femur, caused by multiple simple bone cyst-related pathological fractures. …”
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    Pronounced femur malunion after pathological bone fracture due to a simple bone cyst in the shaft of the femur, treated using Ilizarov fixation: a case report
  18. 30598
    “…CASE PRESENTATION: We present a case report of a 10-year-old girl of Chinese Han ethnicity who presented with renal Fanconi syndrome, infantile hyperinsulinemic hypoglycemia, and transient cholestasis. …”
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    HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature
  19. 30599
    “…The proband was an 11-year-old girl presented with progressive distal limb muscle weakness and atrophy due to peripheral motor neuropathy for 1 year. …”
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    A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V
  20. 30600
    “…It is caused by loss-of-function mutations in the ALPL gene. A newborn girl required respiratory support by nasal-directional positive airway pressure at birth, and pyridoxine hydrochloride administration for vitamin B6-dependent seizures observed from day two. …”
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    A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: clinical course and review of the literature
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