DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 04 · Volume 13 · December 2024 DOI: 10.1055/s-014-60527

Review Article

  • 253
    Finsterer, Josef:

    Phenotypic Heterogeneity of the Mitochondrial DNA Variant m.13513 G > A

    • Original Article

  • 258
    Dhiman, Shalini; Panigrahi, Inusha; Sharma, Maryada; Chaudhry, Chakshu; Garg, Mahak:

    TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients

    Supplementary Material (PDF)
  • 263
    Zeylabi, Fatemeh; Jalali, Mohammad Taha; Kaydani, Gholam-Abbas; Jaseb, Kaveh; Saki, Najmaldin:

    rs1800890 Polymorphism of IL-10 and Susceptibility to Idiopathic Thrombocytopenic Purpura

  • 272
    Kandur, Yasar; Kocakap, Derya Beyza Sayın; Alpcan, Aysegul; Sanlı, Cihat; Sayan, Cemile Dayangan; Koyuncu, Ömer Lütfi:

    Maternal Blood Group Is a Possible Predictor for Developing Congenital Heart Disease in Turkish Children with Down's Syndrome

  • 277
    Akbas, Ahsen Cavusoglu; Erdem, Elif; Bozdogan, Sevcan Tug; Harbiyeli, Ibrahim Inan; Yagmur, Meltem:

    CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Türkiye

  • 283
    Huang, Yi Juan; Jia, Rong Pu; Chen, Yuan Qiu; Zhou, Liang Ji; Gou, Chen Yu; Fan, Mei Qiong; Li, Si; Chen, Maofa; Lin, Hua Ming; Gao, Yu:

    Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder

    Supplementary Material (PDF)
  • 291
    Gowda, Vykuntaraju K.; K., Anusha Raj; Srinivasan, Varunvenkat M.; Vamyanmane, Dhananjaya K.; Srinivas, Sahana M.; Chickabasaviah, Yasha; Santhoshkumar, Rashmi; Mittal, Pallavi; Chikara, Surendra K.; Vishwanathan, Gurudatta Baraka:

    A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant—Checkerboard and Phylloid Type of Pigmentary Mosaicism

  • 300
    Bangalore, Raghunath V; Asthana, Suramya; R., Reshma V.; Saini, Deepak Kumar; Alladi, Anand:

    Understanding the Endocrine and Molecular Signaling Cascade Regulation Pathways in Children with Hypospadias

  • 308
    Zubaidi, Abdulqader Al; Al-Shamsi, Aisha:

    A Novel Missense Heterozygous Mutation in NKX2-5 Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review

    • Case-Based Review

  • 315
    Mattia, Donald; Lindblade, Christopher; Oatman, Oliver; Prakash, Supraja; Grebe, Theresa:

    Novel Case of Prader–Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management

  • 320
    Kósa, Magdolna; Horváth, Emese; Kalmár, Tibor; Maróti, Zoltán; Földesi, Imre; Bereczki, Csaba:

    A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases

    Supplementary Material (PDF)
  • 326
    Kesavelu, Dhanasekhar; Valliyappan, Soundaram; Nalliannan, Sarah; Pande, Priyadarshini; Mahalingam, Subathra:

    LPL Gene Mutation in Type 1 Familial Triglyceridemia Presenting as Recurrent Pancreatitis and Complicated by COVID19

  • 330
    Arora, Veronica; Takkar, Aashita; Dubey, Sudhisha; Gupta, Deepti; Saxena, Renu; Verma, I.C:

    CDKN1C-Related Beckwith-Wiedemann Syndrome: First Patient from India

  • 335
    Antoniadi, Marita; Lambrou, Dimitra; Mylona, Fani; Florentin, Lina; Bili, Chrysanthi; Stefanidis, Constantinos J.; Kostaridou, Stavroula:

    Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations