DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 11 · June 2022 DOI: 10.1055/s-012-54092

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
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

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
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