Special aspects of the clinical course and replacement therapy peculiarities in a patient with autoimmune polyglandular syndrome type 1: a clinical case by Maria G. Pavlova, Olga O. Golounina, Tatyana B. Morgunova, Natalya V. Likhodey, Marina F. Kalashnikova, Aleksandr G. Farmanov, Tamriko D. Khazaliya, Valentin V. Fadeev

“…Autoimmune polyglandular syndrome type 1 (APS-1) is an extremely rare monogenic autosomal recessive disease characterized by development of multiple organ failure with predominant endocrine glands involvement. …”
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Case report: Clinical characteristics and Genetical analysis of HSD11B2 in three Chinese children with apparent mineralocorticoid excess: a case series by Yuan Ding, Yuan Ding, Ming Cheng, Ming Cheng, Bingyan Cao, Bingyan Cao, Min Liu, Min Liu, Xuyun Hu, Xuyun Hu, Di Wu, Di Wu, Di Wu

“…BackgroundApparent Mineralocorticoid Excess (AME) is a rare autosomal recessive disorder, characterized by a notably complex diagnostic process. …”
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Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices by Yufeng Huang, Wenyue Deng, Hui Huang, Xiankai Zhang, Xiaohong Chen, Jian Ye, Sukun Luo, Ting Yu, Hui Yao, Hao Du, Xuelian He

“…IntroductionMucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in ARSB gene. …”
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Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3 by Haixia Zheng, Chongsheng Cheng, Miao He, Wangji Zhou, Yixuan Li, Jinrong Dai, Ting Zhang, Kai‐Feng Xu, Xue Zhang, Xinlun Tian, Yaping Liu

“…ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. …”
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Naxos Disease and Related Cardio-Cutaneous Syndromes by Alexandros Protonotarios, MD, Angeliki Asimaki, Ph.D, Cristina Basso, MD, Zafeirenia Xylouri, MD, Emanuele Monda, MD, Ioannis Protonotarios, MD, Giulia Crisci, MD, Dominic JR. Abrahms, MMBS, MD, MBA, Aris Anastasakis, MD, Loizos Antoniades, MD, Athanasios Bakalakos, MD, Andreina Carbone, MD, Aman S. Coonar, MD, Juan Ramon Gimeno, MD, George Lazaros, MD, Stamatis Lerakis, MD, Luisa Mestroni, MD, George Papadopoulos, MD, Leandro Pecchia, MD, Francesca Romana Prandi, MD, Petros Syrris, MD, Julia Cadrin-Turigny, MD, Anargyros Vasilakis, MSc, Jeffrey E. Saffitz, MD, PhD, Stamatios Gaetano Thiene, MD, Perry M. Elliott, MD, Juan Pablo Kaski, MD, William J. McKenna, MD, Eduardo Bossone, MD, Giuseppe Limongelli, MD, Adalena Tsatsopoulou, MD

“…Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. …”
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Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil by Ana Letícia Amorim de Albuquerque, Júlia Kersting Chadanowicz, Isabela Possebon Bevilacqua, Ana Lucia Portella Staub, Pablo Brea Winckler, Patricia Zambone da Silva, Simone Chaves Fagondes, Renata Salatti Ferrari, Claudia Denise de Oliveira Trojahn, Viviane Zechlinski Sacharuk, Thayne Woycinck Kowalski, Karina Carvalho Donis, Michele Michelin Becker, Jonas Alex Morales Saute

“…Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. …”
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Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum by V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko

“…The prevalence of autosomal recessive pathology was at ratio 1:2268 of people.…”
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Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency by Ezgi Yalcin Gungoren, Zeynep Meric, Asena Pinar Sefer, Asuman Deveci Ozkan, Salim Can, Royala Babayeva, Nurhan Kasap, Ercan Nain, Esra Ozek Yucel, Ayca Kiykim, Sevgi Bilgic-Eltan, Ayse Deniz Yucelten, Elif Karakoc-Aydiner, Ahmet Ozen, Safa Baris

“…Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. …”
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Weighted Gene Co-Expression Network of Growth Differentiation-Related lncRNAs and mRNAs in Plectropomus leopardus by Jin GAO, Jinye LIU, Fuxiao CHEN, Yongbo WANG, Shuyuan FU

“…Als2 plays a significant role in normal muscle development, and mutations in this gene can lead to autosomal recessive amyotrophic lateral sclerosis and related disorders. …”
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Arthrogryposis Multiplex Congenita: Case Report by Ayla Aktulay, Saliha Sağnıç, Özlem Moraloğlu Tekin, Yaprak Engin Üstün, Elif Gül Yapar Eyi, Leyla Mollamahmutoğlu

“…Although it is autosomal recessively inherited, sporadic cases have also been reported. …”
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Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy by A. Nael, P. J. Siaghani, D. Chen, S. G. Romansky, L. Shane

“…Idiopathic Infantile Arterial Calcification is a rare autosome recessive disease characterized by extensive calcification of medium and large arteries. …”
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Diagnosis of GM-1 gangliodosis in Cuba by Caridad Menéndez Saínz, Sergio González García, Claudina Zaldívar Muñoz, Alina González-Quevedo Monteagudo

“…It has a hereditary autosomic-recessive pattern. <strong>Objective:</strong> To determine of β-galactosidase acid activity in patients with suspicion of GM-1 gangliosidosis. …”
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