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Microcephaly-chorioretinopathy syndrome, autosomal recessive form: a case report 由 Rosa, Rafael Fabiano Machado, Enk, Flávia, Camargo, Korine, Travi, Giovanni Marco, Freitas, André, Rosa, Rosana Cardoso Manique, Graziadio, Carla, Mattos, Vinicius Freitas de, Zen, Paulo Ricardo Gazzola

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Type 1 diabetes in a patient with Ellis-van Creveld syndrome 由 Graziadio, Carla, Bernardi, Pricila, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola, Paskulin, Giorgio Adriano

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STAG3 truncating variant as the cause of primary ovarian insufficiency 由 Polona Le Quesne Stabej, Hywel Williams, Chela James, Mehmet Tekman, Horia Stanescu, Robert Kleta, Louise Ocaka, Francesco Lescai, Helen L. Storr, Maria Bitner‐Glindzicz, Chiara Bacchelli, Gerard S. Conway

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Influence of parental and socioeconomic factors on stunting in children under 5 years in Egypt 由 Lisa K. Zottarelli, Thankam Sunil, S Rajaram

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THE PROBABILITY OF CONSANGUINEOUS MARRIAGES 由 L. Luca Cavalli-Sforza, Madoka Kimura, I. Barrai

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Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates 由 Fatma Al‐Jasmi, Nafisa Tawfig, Ans Berniah, Bassam R. Ali, Mahmoud Taleb, Jozef Hertecant, Fatma Bastaki, Abdul‐Kader Souid

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Autism Spectrum Disorder in a Child with Propionic Acidemia 由 Mohammed Al‐Owain, Namik Kaya, Hussain Al-Shamrani, Albandary AlBakheet, Alya Qari, S. Al-Muaigl, Mohammad Ghaziuddin

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Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010–2013) 由 Bandar Al‐Saud, Hamoud Al‐Mousa, Sulaiman Al Gazlan, Abdulaziz Al‐Ghonaium, Rand Arnaout, Amal Al-Seraihy, Sahar Elshorbagi, Nazeema Elsayed, Jawad Afzal, Hasan Al‐Dhekri, Saleh Al‐Muhsen

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Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis 由 Aliya Darr, Neil Small, Waqar Ahmad, Karl Atkin, Peter Corry, B. Modell

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GENETIC ASPECTS IN MYASTHENIA GRAVIS 由 Ritva Pirskanen

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Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity 由 Daniela A. Braun, Markus Schueler, Jan Halbritter, Heon Yung Gee, Jonathan D. Porath, Jennifer A. Lawson, Rannar Airik, Shirlee Shril, Susan J. Allen, Deborah R. Stein, Adila Al Kindy, Bodo B. Beck, Nurcan Cengız, Khemchand N Moorani, Fatih Özaltın, Seema Hashmi, John A. Sayer, Detlef Böckenhauer, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Friedhelm Hildebrandt

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[Study of patients with cleft lip and palate with consanguineous parents]. 由 Sibele Nascimento de Aquino, Lívia Máris Ribeiro Paranaíba, Daniella Reis Barbosa Martelli, Mário Sérgio Oliveira Swerts, Letízia Monteiro de Barros, Paulo Rogério Ferreti Bonan, Hercílio Martelli Júnior

Diagnostic implications of associated defects in patients with typical orofacial clefts 由 Isabella Lopes Monlleó, Amanda G.R. de Barros, Marshall Ítalo Barros Fontes, Ana Karolina Maia de Andrade, Gisèle de Mattos Brito, Diogo Lucas Lima do Nascimento, Vera Lúcia Gil‐da‐Silva‐Lopes

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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in<i>IER3IP1</i>: insights into the natural history of a rare disorder 由 Stavit A. Shalev, Yardena Tenenbaum‐Rakover, Yoseph Horovitz, Veronica Paz, Honggang Ye, David Carmody, Heather M. Highland, Eric Boerwinkle, Craig L. Hanis, Donna M. Muzny, Richard A. Gibbs, Graeme I. Bell, Louis H. Philipson, Siri Atma W. Greeley

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Prevalence of congenital anomalies in neonates and associated risk factors in a tertiary care hospital in eastern India 由 Chaitali Patra, Shatanik Sarkar, MalayKumar Dasgupta, Kaustav Nayek, Prasanta Ray Karmakar

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Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran 由 Gholamreza Toogeh, Roxana Sharifian, Muhammad Ali Lak, Reza Safaee, Andrea Artoni, Flora Peyvandi

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Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders 由 Silvana Santos, Fernando Kok, Mathias Weller, Francisco Rennan Lopes de Paiva, Paulo Alberto Otto

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Consanguinity and complex cardiac anomalies with situs ambiguus. 由 A R Gatrad, A Read, G. H. Watson

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Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. 由 Martin R. Pollak, Yah-Huei Chou, Stephen J. Marx, B Steinmann, David E.C. Cole, Maria Luisa Brandi, Socrates E. Papapoulos, Fred H. Menko, Geoffrey N. Hendy, Edward M. Brown

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The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population 由 Alessandro Gialluisi, Simona Incollu, Tommaso Pippucci, Maria Barbara Lepori, Antonietta Zappu, Georgios Loudianos, Giovanni Romeo

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