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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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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