DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 09 · September 2020 DOI: 10.1055/s-010-49013

Erratum

  • e1
    Eid, Maha M.; Eid, Ola M.; Abdel-Hadi, Sawsan; Hassib, Nehal; Madian, Abdelrahman; Afifi, Hanan H.; Abdel-Salam, Ghada M.H.:

    Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

    • Review Article

  • 149
    Glaeser, Andressa Barreto; Diniz, Bruna Lixinski; Deconte, Desirée; Santos, Andressa Schneiders; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola:

    Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review

  • 158
    Poling, Mikaela I.; Dufresne, Craig R.; McCormick, Rodger J.:

    Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman–Burian Syndrome: Principles for Global Treatment

    • Original Article

  • 164
    Al-Haggar, Mohammad; Osman, Engy; Eid, Abdel-Rahman; Barakat, Tarek; El-Morsi, Samar:

    Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma

  • 171
    Civan, Hasret A.; Seyhan, Serhat:

    Molecular Heterogeneity in Cystic Fibrosis

  • 177
    Pavone, Piero; Pappalardo, Xena Giada; Praticò, Andrea Domenico; Polizzi, Agata; Ruggieri, Martino; Piccione, Maria; Corsello, Giovanni; Falsaperla, Raffaele:

    Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis

    • Case Report

  • 183
    Sharma, Sonia:

    Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology

  • 186
    Bossi, Grazia; Errichiello, Edoardo; Zuffardi, Orsetta; Marone, Piero; Monzillo, Vincenzina; Barbarini, Daniela; Vergori, Antonio; Bassi, Lorenzo Andrea; Rispoli, Gaetana Anna; De Amici, Mara; Zecca, Marco:

    Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant

  • 193
    Anant, Monika; Raj, Nutan; Yadav, Neelu; Prasad, Arun; Kumar, Subhash; Saxena, Ajit K.:

    Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer–Rokitansky–Kuster–Hauser Syndromes

  • 198
    Abo El Fotoh, Wafaa Moustafa M.; Al-fiky, Amira Fathy:

    A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12

  • 203
    Jia, Yue; Yue, Changjun; Bradford, Kathryn; Qing, Xin; Panosyan, Eduard H.; Gotesman, Moran:

    Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review

  • 207
    Eid, Maha M.; Eid, Ola M.; Abdel-Hadi, Sawsan; Hassib, Nehal; Madian, Abdelrahman; Afifi, Hanan H.; Abdel-Salam, Ghada M. H.:

    Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

  • 211
    Oyetunji, Aderonke; Butler, Merlin G.:

    22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature