CHAKSHU CHAUDHRY

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Publications (13)

• The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency — a Comparative Analysis
  Clinical Reviews in Allergy & Immunology 2025 DOI: 10.1007/s12016-025-09070-1
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• Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy
  Journal of Pediatric Genetics 2024 DOI: 10.1055/s-0042-1748019
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• Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency
  Journal of Clinical Immunology 2024 DOI: 10.1007/s10875-023-01633-1
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• Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
  BMJ Case Reports 2023 DOI: 10.1136/bcr-2022-251543
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• Short Stature Syndromes: Case Series from India
  Journal of Pediatric Genetics 2022 DOI: 10.1055/s-0041-1726037
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• Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India
  Congenital Anomalies 2021 DOI: 10.1111/cga.12414
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• X‐linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy
  American Journal of Medical Genetics Part A 2021 DOI: 10.1002/ajmg.a.62134
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• Ayme gripp syndrome in an Indian patient
  American Journal of Medical Genetics Part A 2021 DOI: 10.1002/ajmg.a.62053
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• Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis
  BMJ Case Reports 2021 DOI: 10.1136/bcr-2020-236325
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• Fluctuating weakness: clue in the eyes!
  BMJ Case Reports 2020 DOI: 10.1136/bcr-2020-239211
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