Volume 6, Number 3, Year 2017

Review Article
Irena Vrečar, Josie Innes, Elizabeth A. Jones, Helen Kingstonü William Reardon, Bronwyn Kerr, Jill Clayton-Smith and Sofia Douzgou:
Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

Original Article Kruthika-Vinod TP, Shaik Muntaj, K. S. Devaraju, M. Kamate and A. B. Vedamurthy:
Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I

Gaboon A., E. Nagwa , Khadijah H. Bakur, Alaa Y. Edrees and Jumana Y. Al-Aama:
Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia

Sureni V. Mullegama, Joseph T. Alaimo, Michael D. Fountain, Brooke Burns, Amanda Hebert Balog, Li Chen, and Sarah H. Elsea:
RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome

Luis Alberto endez-Rosado, Araceli Lantigua, Juan Galarza, Ahmed B. Hamid Al-Rikabi, Monika Ziegler and Thomas Liehr:
Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy

Rong Zhang, Michael Knapp, Franziska Kause, Heiko Reutter and Michael Ludwig:
Role of the LF-SINE–Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy

Case Reports
Yavuz Sahin, Aysegul Ozcan:
First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X

Smrithi Salian, Anju Shukla, Gen Nishimura and Katta M. Girisha:
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene

P. Fontana, D. Melis, A. D'Amico, G. Cappuccio, G. Auletta, P. Vassallo, R. Genesio, L. Nitsch and W. Buffolano:
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

Sébastien Mbuyi-Musanzayi, ; Aimé Lumaka, Toni LubalaKasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe and Koenraad Devriendt:
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa

Sheela Nampoothiri, Malavika Hebbar, Arun Grace Roy, Sheena P. Kochumon, Stephanie Bielas, Anju Shukla and Katta M. Girisha:
Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3

Periyasamy Radhakrishnan, Shalini S. Nayak, Muralidhar V. Pai, Anju Shukla, Katta M. Girisha:
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation

Siddaramappa J. Patil, Puneeth H. Somashekar, Anju Shukla, Satish Siddaiah, Venkatraman Bhat, Katta M. Girisha and Pooja N. Rao:
Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation