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  1. 30261
    por Cai, You-Ran, Liang, Yong, Zhong, Xin
    Publicado 2022
    “…CASE SUMMARY: We present the case of an 11-year-old Chinese girl with IP who complained of sudden blurring of vision in the left eye. …”
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    Late contralateral recurrence of retinal detachment in incontinentia pigmenti: A case report
  2. 30262
    “…The aim of this work was to go one step further in the knowledge of the disease, through a molecular and proteomic analysis of peripheral blood mononuclear cells (PBMCs) from two children, a 13-year-old girl and a 6-year-old boy, called patient 1 and patient 2, respectively, with clinical data supporting the diagnosis of ALPS. …”
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    Differential Expression of Proteins in an Atypical Presentation of Autoimmune Lymphoproliferative Syndrome
  3. 30263
    “…Acute lymphoblastic leukemia (ALL) is considered a possible risk for the occurrence of thrombotic microangiopathies. We present a girl with pre-B ALL successfully treated according to the BFM ALL IC-2009 protocol on maintenance therapy followed by aHUS occurrence. …”
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    A Limited Course of Eculizumab in a Child with the Atypical Hemolytic Uremic Syndrome and Pre-B Acute Lymphoblastic Leukemia on Maintenance Therapy: Case Report and Literature Review
  4. 30264
    “…In recent years, genetic studies have shed light on the etiology and several mutations have been identified in patients with CD. CASE PRESENTATION: A girl presented at the age of 10 years and 9 months with facial plethora, hirsutism and acne. …”
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    Concurrent mutations of germline GPR101 and somatic USP8 in a pediatric giant pituitary ACTH adenoma: a case report
  5. 30265
    “…This case report dealt with a 16-year-old girl who was self-referred to the psychologist with complaints of getting sexually harassed by her brother-in-law, difficulty in managing academic challenges, communication gap with parents, and difficulty in handling her anger for the past 7 years. …”
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    Case Report: A Functional Approach to Deal With Sexual Harassment Within Families
  6. 30266
    “…We report a case of an 18-year-old girl who presented for a history of an enlarged head, pain of lower limbs, and no menstrual onset or breast development. …”
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    Improvement of Bone Health and Initiation of Puberty Development in Camurati-Engelmann Disease With Glucocorticoid and Losartan Treatment: A Case Report and Review of Literature
  7. 30267
    por Park, Jung Eun Jeanne
    Publicado 2022
    “…This study was conducted on a 6-year-old girl with autism spectrum disorder (ASD) in Korea. …”
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    A Parent-Focused Creative Approach as a Treatment for a High-Functioning Child with Autism Spectrum Disorder (ASD) in Korea: A Case Study
  8. 30268
    “…CASE PRESENTATION: A 15-year-old girl presents with a protuberant painful mass of the right hallux of 2 years. …”
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    Dermatofibrosarcoma protuberans of the hallux: A case report with review of the literature
  9. 30269
    “…The patients included five boys and one girl, with an average age of 10 years; five with postoperative cleft lip and palate, and one without combined cleft lip and palate. …”
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    Application of trans-sutural distraction osteogenesis based on an optical surgical navigation system to correct midfacial dysplasia
  10. 30270
    “…CASE PRESENTATION: Here, we report the case of a 4-year-old girl who was hospitalized mainly because of pallor, brown urine, and fatigue, followed by hypertension, renal insufficiency, hemolytic anemia, cardiac enlargement, cardiac insufficiency, and coronary artery ectasia. …”
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    Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia
  11. 30271
    “…METHODS: A sample from a 15‐year‐old girl presenting with progressively‐deforming OI type III was tested using an NGS custom gene panel. …”
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    The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta
  12. 30272
    “…CLINICAL CASE: 3-year-old girl with homozygous SCD, presenting with fever, cough, vomiting and pain in the lower limbs. …”
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    Parvovirus b19 infection in children with sickle cell disease, watch out for splenomegaly! A case report
  13. 30273
    “…Herein, we report the case of a 6-year-old girl with COVID-19-associated encephalopathy without respiratory symptoms. …”
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    Acute encephalopathy in a 6-year-old child with concurrent COVID-19 infection: a case report from Saudi Arabia
  14. 30274
    “…CASE PRESENTATION: The case was a 14-year-old girl with AIS (baseline Cobb angle of 38.9° in the lumbar spine and 32.3° in the thoracic spine). …”
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    Case Report on Visceral Manipulation in Adolescent Idiopathic Scoliosis
  15. 30275
    “…Here, we studied an affected girl presenting with a classic CdLS phenotype heterozygous for a de novo ~32 kbp intragenic duplication affecting exon 10 of HDAC8. …”
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    A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
  16. 30276
    “…The proband is a 9-year-old girl born from non-consanguineous parents. Both parents were asymptomatic and denied family history of ocular disease. …”
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    Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1
  17. 30277
    “…We hereby describe the case of a 10-year-old girl, immunocompetent, who had endocarditis/sepsis by K. rosea which was identified in five different blood cultures by Vitek 2 ID-GPC card (BioMérieux, France). …”
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    Endocarditis by Kocuria rosea in an immunocompetent child
  18. 30278
    “…Herein, we report the first case of a patient who was diagnosed with SLE complicated by concurrent intracranial hypertension and bilateral optic neuritis. An 11-year-old Thai girl had a low-grade fever, discoid rash, oral ulcer, chronic headache, and fluctuating diplopia. …”
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    Concurrent Intracranial Hypertension and Bilateral Optic Neuritis in a Patient With Systemic Lupus Erythematosus: A Case Report
  19. 30279
    por Zhang, Ying, Tang, Li
    Publicado 2022
    “…CASE SUMMARY: A 10-year-old girl with symptoms of vision loss, redness, swelling and pain in the right eye for 2 mo was admitted to our Department of Ophthalmology. …”
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    Retinoblastoma in an older child with secondary glaucoma as the first clinical presenting symptom: A case report
  20. 30280
    “…We present three cases from two unrelated families (a girl and two brothers) homozygous for a recurrent pathogenic NDUFS8 variant [c.460G>A, p.…”
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    Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder
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