DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 06 · September 2017 DOI: 10.1055/s-007-34525

Review Article

Original Article

155
Mullegama, Sureni V.; Alaimo, Joseph T.; Fountain, Michael D.; Burns, Brooke; Balog, Amanda Hebert; Chen, Li; Elsea, Sarah H.: RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome
165
Mendez-Rosado, Luis Alberto; Lantigua, Araceli; Galarza, Juan; Hamid Al-Rikabi, Ahmed B.; Ziegler, Monika; Liehr, Thomas: Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy
169
Zhang, Rong; Knapp, Michael; Kause, Franziska; Reutter, Heiko; Ludwig, Michael: Role of the LF-SINE–Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy

Case Report

177
181
Fontana, P.; Melis, D.; D'Amico, A.; Cappuccio, G.; Auletta, G.; Vassallo, P.; Genesio, R.; Nitsch, L.; Buffolano, W.: Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?
186
Mbuyi-Musanzayi, Sébastien; Lumaka, Aimé; Kasole, Toni Lubala; Ilunga, Erick Kasamba; Asani, Bienvenu Yogolelo; Tshilobo, Prosper Lukusa; Muenze, Prosper Kalenga; Reychler, Hervé; Katombe, François Tshilombo; Devriendt, Koenraad: Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa
191
Nampoothiri, Sheela; Hebbar, Malavika; Roy, Arun Grace; Kochumon, Sheena P.; Bielas, Stephanie; Shukla, Anju; Girisha, Katta M.: Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3
194
Radhakrishnan, Periyasamy; Nayak, Shalini S.; Pai, Muralidhar V.; Shukla, Anju; Girisha, Katta M.: Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation
198
Patil, Siddaramappa J.; Somashekar, Puneeth H.; Shukla, Anju; Siddaiah, Satish; Bhat, Venkatraman; Girisha, Katta M.; Rao, Pooja N.: Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation