Journal of Pediatric Genetics

Issue 02 · June 2022

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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

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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

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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

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099
Panda, Prateek Kumar; Sharawat, Indar Kumar; Dawman, Lesa: GRID2 Mutation-Related Spinocerebellar Ataxia Type 18: A New Report and Literature Review

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110
Elmas, Muhsin; Yildirim, Umit Can: Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience

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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

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Supplementary Material
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

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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

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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

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Supplementary Material
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

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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

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147
Demir, Damla; Kendir Demirkol, Yasemin; Gerenli, Nelgin; Aktaş Karabay, Ezgi: Johanson–Blizzard's Syndrome with a Novel UBR1 Mutation

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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

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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

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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

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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

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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

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Letter to the Editor
171
Sookaromdee, Pathum; Wiwanitkit, Viroj: Ceroid Lipofuscinosis in Children: Correspondence

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172
Gowda, Vykuntaraju K.: Ceroid Lipofuscinosis in Children: Author's Reply

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