DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 02 · Volume 11 · Juni 2022 DOI: 10.1055/s-012-54092

Erratum

  • e1
    Menon, Jagadeesh; Vij, Mukul; Shanmugam, Naresh; Hakeem, Abdul; Reddy, Mettu Srinivas; Kaliamoorthy, Ilankumaran; Rela, Mohamed:

    Erratum: Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver

    • Original Article

  • 087
    Gowda, Vykuntaraju K.; Vignesh, Sukanya; Nagarajan, Balamurugan; Srinivasan, Varunvenkat M.; Battina, Manojna; Bhat, Maya; Christopher, Rita:

    Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss

  • 091
    Cakan, Nursen; Yılmaz, Resul; Karaaslan, Erhan; Ateş, Ömer:

    Association of Macrophage Migration Inhibitory Factor Gene –173 G/C Polymorphism (rs755622) with Familial Mediterranean Fever in Children

  • 099
    Panda, Prateek Kumar; Sharawat, Indar Kumar; Dawman, Lesa:

    GRID2 Mutation-Related Spinocerebellar Ataxia Type 18: A New Report and Literature Review

  • 110
    Elmas, Muhsin; Yildirim, Umit Can:

    Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience

  • 117
    Nevin, Suzanne M.; McLoone, Jordana; Wakefield, Claire E.; Kennedy, Sean E.; McCarthy, Hugh J.:

    Genetic Testing in the Pediatric Nephrology Clinic: Understanding Families' Experiences

    Supplementary Material (PDF)
  • 126
    Deeb, Asma; Juraibah, Fahad Al; Dubayee, Muhammad Al; Habeb, Abdelhadi:

    X-linked Hypophosphatemic Rickets: Awareness, Knowledge, and Practice of Pediatric Endocrinologists in Arab Countries

    Supplementary Material (PDF)

    • Case Report

  • 132
    Menon, Jagadeesh; Shanmugam, Naresh; Srinivas, Sripriya; Vij, Mukul; Jalan, Anil; Srinivas Reddy, Mettu; Rela, Mohamed:

    Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis

  • 135
    Vrkić Boban, Ivona; Sekiguchi, Futoshi; Lozić, Mirela; Miyake, Noriko; Matsumoto, Naomichi; Lozić, Bernarda:

    A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder

    Supplementary Material (PDF)
  • 139
    Waldner, Richelle C.; Rojas-Vasquez, Marta; Metcalfe, Peter D.; Haqq, Andrea M.:

    Extensive Pelvic Plexiform Neurofibroma Presenting As Clitoromegaly in a 3-Year-Old Female: Presentation and Management with MEK Inhibitor

  • 144
    Sandweiss, Alexander J.; Patel, Shalinkumar; Bader, Mohammad Y.; Kylat, Ranjit I.:

    A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype

    Supplementary Material (PDF)
  • 147
    Demir, Damla; Kendir Demirkol, Yasemin; Gerenli, Nelgin; Aktaş Karabay, Ezgi:

    Johanson–Blizzard's Syndrome with a Novel UBR1 Mutation

  • 151
    Llorente-La-Orden, Carlos; Burgos-Blasco, Bárbara; Domingo-Gordo, Blanca; Hernández-García, Elena; Gómez-de-Liaño, Rosario:

    Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure

  • 154
    Pournami, Femitha; MK, Alok Kumar; Panackal, Anila V.; Nandakumar, Anand; Prabhakar, Jyothi; Jain, Naveen:

    Microvillus Inclusion Disease: A Rare Mutation of STX3 in Exon 9 Causing Fatal Congenital Diarrheal Disease

  • 158
    Segovia-Ortí, Raquel; Espinosa de los Monteros Aliaga Cano, Natalia; Lumbreras, Javier; Sotto-Esteban, Diego de; Rodrigo, María Dolores:

    Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

  • 162
    Carman, Kursat Bora; Kaplan, Emre; Aslan, Cefa Nil; Kocagil, Sinem; Cilinigr, Oguz; Yarar, Coskun:

    Wiedemann–Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features

  • 165
    Menon, Jagadeesh; Vij, Mukul; Shanmugam, Naresh; Hakeem, Abdul; Reddy, Mettu Srinivas; Kaliamoorthy, Ilankumaran; Rela, Mohamed:

    Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver

    • Letter to the Editor

  • 171
    Sookaromdee, Pathum; Wiwanitkit, Viroj:

    Ceroid Lipofuscinosis in Children: Correspondence

  • 172
    Gowda, Vykuntaraju K.:

    Ceroid Lipofuscinosis in Children: Author's Reply