DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 04 · Volume 12 · December 2023 DOI: 10.1055/s-013-58841

Corrigendum

  • e1
    Cammarata-Scalisi, Francisco; Matysiak, Uta; Willoughby, Colin E.; Ruzaike, Gunda; Cárdenas Tadich, Antonio; Araya Castillo, Maykol; Zara-Chirinos, Carmen; Bracho, Ana; Avendaño, Andrea; Jilani, Houweyda; Callea, Michele:

    Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

    • Review Article

  • 263
    Ibarra-Ramírez, Marisol; Campos-Acevedo, Luis Daniel; Martínez de Villarreal, Laura E.:

    Chromosomal Abnormalities of Interest in Turner Syndrome: An Update

    • Original Article

  • 273
    Prapasrat, Chanita; Onsod, Preyaporn; Korkiatsakul, Veerawat; Rerkamnuaychoke, Budsaba; Wattanasirichaigoon, Duangrurdee; Chareonsirisuthigul, Takol:

    The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader–Willi Syndrome in Thai Patients

    Supplementary Material (PDF)
  • 280
    Gowda, Vykuntaraju K.; Raj, Anusha; Vamyanmane, Dhananjaya K.; Nagarajappa, Vani H.; Srinivas, Sahana M.; Tirumale, Rajalakshmi; Ranganath, Jaya; Gaddehosur, Chandan; Vishwanathan, Gurudatta B.:

    Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis

  • 288
    Akin-Bali, Dilara Fatma; Doganay Erdogan, Beyza; Aslar Oner, Deniz; Mahmud, Akkan; Tasdelen, Serpil; Kurekci, Emin; Akar, Nejat; Ozdag Sevgili, Hilal:

    Genetic Profiling of Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia

    Supplementary Material (PDF)
  • 301
    Machado, Roberta Ismael Lacerda; Souza, Paulo Victor Sgobbi de; Farias, Igor Braga; Badia, Bruno de Mattos Lombardi; Filho, José Marcos Vieira de Albuquerque; Lima, Ricello José Vieira; Pinto, Wladimir Bocca Vieira de Rezende; Oliveira, Acary Souza Bulle:

    Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot–Marie–Tooth's Disease in Brazil

    Supplementary Material (PDF)

    • Case-Based Review

  • 308
    Poon, Kok-Siong; Tan, Karen Mei-Ling; Zacharin, Margaret; Ho, Cindy Wei-Li:

    A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl

  • 312
    Xia, Changqing; Kumar, Dibyendu; You, Bei; Streck, Deanna L.; Osborne, Lisa; Dermody, James; Jiang, Jie-Gen; Pletcher, Beth A.:

    Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

  • 318
    Singanamalla, Bhanudeep; Kesavan, Shivan; Aggarwal, Divya; Chatterjee, Debajyoti; Urtizberea, Andoni; Suthar, Renu:

    Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy

  • 325
    Sharma, Sonia; Gupta, Shailesh; Mehta, A. P.; Sidana, Poonam:

    Infantile Galactosialidosis with Novel Mutation: An Early Presentation

  • 329
    Kaur, Tripat; Sriram, Chenni S.; Prasanna, Priyanka; Kohli, Utkarsh:

    Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome

    Video available
    Supplementary Material (PDF) Supplementary Material (PDF)
  • 335
    Sturgis, Morgan R.; Wrobel, Kathryn E.; Bosco, Gianna N.; Jones, Carolyn H.:

    Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

  • 339
    Cammarata-Scalisi, Francisco; Matysiak, Uta; Willoughby, Colin E.; Ruzaike, Gunda; Cárdenas Tadich, Antonio; Araya Castillo, Maykol; Zara-Chirinos, Carmen; Bracho, Ana; Avendaño, Andrea; Jilani, Houweyda; Callea, Michele:

    A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

  • 342
    Chaudhry, Chakshu; Kumari, Divya; Panigrahi, Inusha; Kaur, Parminder:

    Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations

  • 348
    Candelaria, Gabriela de Toledo Passos; Antunes, Alexandre de A.; Pastorino, Antonio C.; Dorna, Mayra de B.; Zanardo, Evelin A.; Dias, Alexandre T.; Sugayama, Sofia M. M.; Odone-Filho, Vicente; Kulikowski, Leslie D.; Garanito, Marlene P.:

    Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss

    • Letter to the Editor

  • 352
    John, Elizabeth Mary; Sathyan, Sajina; Pournami, Femitha; Prithvi, Ajai Kumar; Nandakumar, Anand; Prabhakar, Jyothi; Jain, Naveen:

    CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease