DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 03 · Volume 13 · September 2024 DOI: 10.1055/s-014-60029

Original Article

  • 167
    Ramos-Mejía, R; del Pino, M; Aza-Carmona, M; Abbate, S; Obregon, M G.; Heath, K E.; Fano, V:

    Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome

  • 175
    Al Balushi, Aaisha; Al Hinai, Mariya; Al Hosni, Alya; Al Amrani, Fatima; Al Maimani, Ashwaq; Al Maki, Nabil; Al Hashmi, Nadia:

    Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype–Phenotype Review from a Single-Center Experience

  • 181
    Wacharasindhu, Suttipong; Ittiwut, Chupong; Ittiwut, Rungnapa; Aroonparkmongkol, Suphab; Suphapeetiporn, Kanya:

    A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD

  • 185
    J., Shantala; Upadhyay, Zalak; N., Vani H.; Sathyanarayana, Santhosh Olety; Palany, Raghupathy; J., Shruthi:

    Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia—Wolcott–Rallison's Syndrome

  • 190
    Ayaz, Akif; Doğru, Zeynep; Kök, Kıvanç; Bayram, Nihan; Yaman, Yöntem; Köseoğlu, Abdullah Hüseyin; Yiğitbaşı, Türkan; Öztürk Demir, Aslı Güner; Yüksel, Elçin; Dundar, Burcu; Çaralan, Erdal Fırat; Nepesov, Serdar; Elli, Murat:

    A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3

    • Case Report

  • 200
    Chidambaram, Aakash Chandran; Sugumar, Kiruthiga; Sundaravel, Selvamanojkumar; Ramamoorthy, Jaikumar Govindaswamy; Bathula, Siddardha; Dutta, Usha R.:

    Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome

    • Case-Based Review

  • 205
    Laochareonsuk, Wison; Osatakul, Seksit; Intusoma, Utcharee; Maneechay, Wanwisa; Sangkhathat, Surasak:

    A Novel Mutation of ORNT1 Detected in a Hyperornithinemia–Hyperammonemia–Homocitrullinuria Syndrome Child by Clinical Whole-Exome Sequencing

    Open Access
    Supplementary Material (PDF)
  • 211
    Ghawil, Millad; Omar, Nesrin Ben; Doggah, Milad:

    Homozygous TBCE Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients

  • 215
    Abdelrahman, Hanadi A.; Akawi, Nadia; Al-Shamsi, Aisha M.; Al-Gazali, Lihadh; Ali, Bassam R.:

    Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature

    Supplementary Material (PDF)
  • 223
    Mirza, Nida; Bharadwaj, Ravi; Malhotra, Smita; Sibal, Anupam:

    Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

  • 227
    Lourembam, Radhapyari; Gupta, Manish Kumar; Sherwani, Poonam; Verma, Prashant Kumar:

    Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies in a Young Infant: First Case Entity of Casamassima–Morton–Nance Syndrome from Asia

  • 232
    Tan, Khian Aun; Chew, Hui Bein; Yacob, Yusnita; Khoo, Teik Beng:

    A Common CHAT Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children

  • 237
    Jafar, Bedour; Alemayehu, Hanna; Bhat, Ramachandra; Zayek, Michael:

    Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review

  • 245
    Thakur, Seema; Paliwal, Preeti; Farmania, Rajni; Khandelwal, Vipin; Garg, Vivek:

    Phosphofurin Acidic Cluster Sorting Protein 1 Syndrome: Insights Gained on the Multisystem Involvement Reviewing Encoded Protein Interactions?

    • Retraction Note

  • 250
    Çaksen, Hüseyin:

    Retraction Note: Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder

  • 251
    Çaksen, Hüseyin:

    Retraction Note: Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective

  • 252
    Çaksen, Hüseyin:

    Retraction Note: A Brief View of The Prophet Ayyub's (Alayhi As-Salam) Disease: Was It Job's Syndrome?