Medical Genetics

Uzm. Dr. Duygu Gamze Aracı

Doctor and researcher Bağcılar Eğitim ve Araştırma Hastanesi İstanbul
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  • SpecialtyMedical Geneticssaglik.gov.trFrom source
  • InstitutionBağcılar Eğitim ve Araştırma Hastanesisaglik.gov.trFrom source
  • Publications6 publicationsOpenAlex, ORCIDFrom source
  • ORCID0000-0001-9255-6062ORCIDFrom source
  • Last synchronised5 November 2026 08:55https://bagcilareah.saglik.gov.tr/TR-1478513/doktorlarimiz.html#duygu-gamze-aracisaglik.gov.tr

Scientific work

Publications

6 publications

  1. A Novel Truncating LIFR Variant in a Neonate With Stüve–Wiedemann Syndrome Presenting With Blue Sclerae

    Journal of Paediatrics and Child Health, 2026

    DOI 10.1111/jpc.70517 PMID 42490044 Source: OpenAlex

  2. Striking Scrotal Hyperpigmentation as an Early Clinical Sign of Familial Glucocorticoid Deficiency Type 2: A Case with Homozygous MRAP Variant

    Journal of Clinical Research in Pediatric Endocrinology, 2026

    DOI 10.4274/jcrpe.galenos.2026.2025-10-12 PMID 42483961 Open-access full textSource: ORCID

  3. Genotype-Phenotype Heterogeneity in Von Hippel-Lindau Disease: A Single-Center Multidisciplinary Study

    Research Square, 2026

    DOI 10.21203/rs.3.rs-8660830/v1 Open-access full textSource: OpenAlex

  4. A Novel THRβ Variant in a Child With Resistance to Thyroid Hormone β: Diagnostic and Therapeutic Challenges

    Journal of Clinical Research in Pediatric Endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2025.2025-6-7 PMID 40960072 Open-access full textSource: ORCID

  5. Insights on 7p21 deletion including the TWIST1 gene: a case report of an adult patient with macroglossia and a literature review

    Egyptian Journal of Medical Human Genetics, 2025

    DOI 10.1186/s43042-025-00674-y Open-access full textSource: ORCID

  6. Investigation of the relationship between reproductive disorders and chromosomal abnormalities in a large-scale, single-center 10-year retrospective study

    Journal of Gynecology Obstetrics and Human Reproduction, 2022

    DOI 10.1016/j.jogoh.2022.102467 PMID 36044979 2 citations (Europe PMC) Source: ORCID