Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome by Amornpol Anuwatworn, Prince Sethi, Kelly Steffen, Orvar Jonsson, Marian Petrasko

“…Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. …”
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Changes in the organ of vision in neurofibromatosis type 1 in the developmental age by Mirosława Grałek, Katarzyna Piasecka, Katarzyna Wasyliszyn-Sieroszewska, Anna Niwald

“…Neurofibromatosis type 1 is a genetic disorder with clinical manifestations determined by their origin in the three germ layers. …”
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Emergency cesarean section in a pregnant woman with Freeman-Sheldon syndrome and acute respiratory distress. A Case report by Viviana de la Caridad Sáez Cantero

“…Freeman-Sheldon syndrome is a rare genetic disorder characterized by a wide spectrum of bone abnormalities, joint contractures, and typical facial features. …”
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Case Study: Analyzing CFTR Mutations and SNPs in Pulmonary Fibrosis Patients with Unclear Symptoms by Sahar Yousaf, null Sumaira, Iqbal Bano, Atia Rehman, Samra Kousar, Muhammad Usman Ghani, Mariam Shahid

“…Cystic fibrosis (CF) is a genetic monogenic disorder inherited in an autosomal recessive manner, marked by persistent airway infections in the endobronchial region. …”
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Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians by Polin Haghvirdizadeh, Vasudevan Ramachandran, Ali Etemad, Farzad Heidari, Nooshin Ghodsian, Norzian Bin Ismail, Patimah Ismail

“…Type 2 diabetes mellitus (T2DM) is a complex polygenic disorder characterized by impaired insulin resistance, insulin secretion, and dysregulation of lipid and protein metabolism with environmental and genetic factors. …”
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Collagenous Sprue by Hugh James Freeman

“…Future studies are needed to more precisely define molecular and genetic biomarkers that identify homogeneous groups and permit the development of improved treatment strategies for this increasingly recognized disorder.…”
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Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC) by Yi-Lei Lu, Meng-wei Liu, Jie-Yuan Jin, Ding Pan

“…This study aimed to identify the genetic etiologies of AMC patients and provide genetic testing information for further diagnosis and treatment of AMC. …”
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Recent advances in the managements of type 2 diabetes mellitus and natural hypoglycemic substances by Chong Ning, Yuhan Jiao, Jiaqi Wang, Weiwei Li, Jingqiu Zhou, Yi-Chieh Lee, Dik-Lung Ma, Chung-Hang Leung, Rugang Zhu, Hui-Min David Wang

“…T2DM is a type of metabolic disorder syndrome that results from a genetic defect, and it is based on insulin resistance and an insulin secretion disorder. …”
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Steatocystoma Multiplex: “Keep me in your Differentials” by Sudha Sharma, V. Anish Chandran, Praveen Kumar Shukla, Ajay Kumar

“…Steatocystoma multiplex (SM) is a rare autosomal dominant genetic disorder, seen in adolescence and characterized by hamartomatous malformation of the pilosebaceous units. …”
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Alström’s Syndrome, Leber’s Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis by Palaiologos Alexopoulos, Chrysanthos Symeonidis, Tryfon Rotsos

“…A case of a patient with the Alström syndrome (AS) that was misdiagnosed as Leber’s hereditary optic neuropathy or retinitis pigmentosa for 13 years is presented. AS is a rare genetic disorder caused by mutations in the ALMS1 gene. …”
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A Confusing Coincidence: Neonatal Hypoglycemic Seizures and Hyperekplexia by Nihat Demir, Murat Doğan, Sanem Yılmaz, Erdal Peker, Keziban Bulan, Oğuz Tuncer

“…Hyperekplexia is a rare, nonepileptic, genetic, or sporadic neurologic disorder characterized by startle responses to acoustic, optic, or tactile stimuli. …”
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Poikiloderma with neutropenia: a case report by Jebran Chekr, Jan Andraws, Jubran Elias, Diana Alasmar

“…Abstract Background Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. …”
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GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report by Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee

“…Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. …”
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Neurofibromatosis Type I and Stromal Tumor with a Multiple Digestive Localization by Amina Chaka, Farouk Ennaceur, Mohamed Amine Tormen, Ibtissem Korbi, Faouzi Noomen, Khadija Zouari

“…Neurofibromatosis type I (NF1) is also known as von Recklinghausen disease. It is a genetic disorder that affects the growth and development of nerve cell tissue, which is characterized by a multisystem disorder and an increased risk for cancer. …”
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Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes by Mohamed Abdelghafar Hussein, Heba ElTaher, Ranim Mahmoud, Donia Sobh, Mohammad Al-Haggar

“…Abstract Background Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase. …”
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Machine learning and AI for advancing Parkinson's disease diagnosis: exploring promising applications by Shohreh Abdollahi, Ramin Safa

“…Parkinson's disease is a progressive neurodegenerative disorder affecting millions worldwide. It is characterized by tremors, stiffness, and movement problems, significantly impacting the quality of life for individuals affected by it. …”
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Secondary Hemophagocytic Syndrome: The Importance of Clinical Suspicion by Cristina Oliveira, Sérgio Chacim, Isabel Ferreira, Nelson Domingues, José Mário Mariz

“…Hemophagocytic syndrome is a rare and potentially fatal disorder characterized by pathological immune activation associated with a primary familial disorder, genetic mutations, or occurring as a sporadic condition. …”
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Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings by Shishir Ram Shetty, Deepa Dsouza, Subhas Babu, Preethi Balan

“…Osteogenesis imperfecta (OI) is a hereditary disorder characterized by increased tendency for bone fractures due to high fragility. …”
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Cellular Reprogramming, Genome Editing, and Alternative CRISPR Cas9 Technologies for Precise Gene Therapy of Duchenne Muscular Dystrophy by Peter Gee, Huaigeng Xu, Akitsu Hotta

“…In particular, Duchenne muscular dystrophy (DMD) has been an exemplary monogenic disease model for combining these technologies to demonstrate that genome editing can correct genetic mutations in DMD patient-derived iPSCs. DMD is an X-linked genetic disorder caused by mutations that disrupt the open reading frame of the dystrophin gene, which plays a critical role in stabilizing muscle cells during contraction and relaxation. …”
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Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism by Somayyeh Hashemian, Reza Jafarzadeh Esfehani, Siroos Karimdadi, Rahim Vakili, Daniel Zamanfar, Amirhossein Sahebkar

“…Congenital hyperinsulinism (CHI) is a rare and life-threatening genetic disorder. Sirolimus as a mammalian target of rapamycin inhibitor may be helpful in patients with CHI who do not respond well to other treatments including diazoxide and octreotide. …”
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