DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 04 · Volume 10 · Dezember 2021 DOI: 10.1055/s-011-52342

Case-Based Review

259
Pappalardo, Xena Giada; Ruggieri, Martino; Falsaperla, Raffaele; Savasta, Salvatore; Raucci, Umberto; Pavone, Piero: A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1

Original Article

266
Gowda, Vykuntaraju K.; Vegda, Hemadri; Sugumar, Kiruthiga; Narayanappa, Gayathri; Srinivasan, Varunvenkat M.; Santhoshkumar, Rashmi; Bhat, Maya; Balu, Sam; Naveen, Mohan Rao: Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India
274
Sudarshan, Shruthi; Kumar, Atin; Gupta, Arun; Bhari, Neetu; Sethuraman, Gomathy; Kaushal, Tanuja; Pradhan, Ankita; Sapra, Savita; Gupta, Neerja; Kaur, Punit; Gulati, Sheffali; Chakrawarty, Biswaroop; Danda, Sumita; Bhatt, Meenakshi; Kapoor, Seema; Girisha, Katta M.; Sankhyan, Naveen; Kabra, Madhulika; Chowdhury, Madhumita Roy: Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population
Supplementary Material
284
Noorian, Shahab; Khonsari, Nami Mohammadian; Savad, Shahram; Hakak-Zargar, Benyamin; Voth, Tessa; Kabir, Koroush: Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth
292
Milone, Roberta; Cesario, Claudia; Goldoni, Marina; Pasquariello, Rosa; Fusilli, Caterina; Giovannetti, Agnese; Giglio, Sabrina; Novelli, Antonio; Caputo, Viviana; Cioni, Giovanni; Mazza, Tommaso; Battaglia, Agatino; Bernardini, Laura; Battini, Roberta: Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders
Supplementary Material
300
Grewal, Meenu; Muranjan, Mamta: Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India

Case Report

305
Santhakumar, Senthilvelan; Lukas, Jospaul; Unnikrishnan, Gopikrishnan; Thomas, Bejoy; Kesavadas, Chandrasekharan: Treatable Hereditary Manganese Transport Disorder: Novel SLC30A10 Mutation and its Characteristic Neuroimaging Appearance in Two Siblings
311
Perry, Michael D.; Evans, Martin J.; Byrd, Philip J.; Taylor, Malcolm R.: Biallelic Mutation of SETX and Additional Likely “In Cis” SETX Sequence Change in Ataxia with Oculomotor Apraxia Type 2
315
Aygünes, Utku; Dogan, Melih Timucin; Keceli, Avni Merter: PHACE Syndrome in a Child with Structural Malformations of the Brain
319
Brandão, Gabriela Rangel; Welter, Amanda Thum; Abech, Gabriel Dotta; Almeida, Carla Bastos da Costa; Okabayashi, Caio Seiti Mestre; Gadelha, Kerolainy Alves; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado: Trisomy 21 and Ebstein Anomaly: Diagnosis and Prognosis of a Rare Association
323
Pérez-Solís, David; Montes-Zapico, Bárbara; Rodríguez-Dehli, Ana-Cristina; García-Hoyos, María; Arroyo-Hernández, Mireia: Novel UGT1A1 Gene Mutations in a Boy with Crigler–Najjar Syndrome Type II
326
Dwivedi, Aradhana; Kumar, Vivek; Ramamurthy, H. Ravi: Partial Trisomy 16q21-q24.3 with Novel Cardiac Manifestation of Left Ventricular Noncompaction Cardiomyopathy: A Case Report
331
Singh, Ravi Kumar; Arora, Veronica; Tiwari, Vaibhav; Gupta, Deepti; Gupta, Anurag; Puri, Ratna Dua: Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation