Physiotherapy and Rehabilitation in a Child with Joubert Syndrome by Özge İpek, Özge Akyolcu, Banu Bayar

“…Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. …”
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Towards a Molecular Understanding of the Fanconi Anemia Core Complex by Charlotte Hodson, Helen Walden

“…Fanconi Anemia (FA) is a genetic disorder characterized by the inability of patient cells to repair DNA damage caused by interstrand crosslinking agents. …”
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Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome by Alessandro Aquino, Mattia Perini, Silvia Cosmai, Silvia Zanon, Viviana Pisa, Carmine Castagna, Stefano Uberti

“…Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. …”
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Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration by Natalie Diaz

“…Although PKAN is a rare genetic disorder most commonly seen in childhood, it should be considered in adult patients with a history of progressive focal dystonia or atypical Parkinsonism. …”
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Nephrological problems in a child with Aicardi-Goutières syndrome by Małgorzata Piejak, Zuzanna Hus, Adam Bujanowicz, Piotr Skrzypczyk, Joanna Samotyjek, Beata Jurkiewicz, Hanna Szymanik-Grzelak, Mariusz I. Furmanek, Małgorzata Pańczyk-Tomaszewska

“…Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by excessive interferon-alpha production, leading to central nervous system damage, manifesting as subacute encephalopathy in infancy. …”
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Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton by Amélie E. Coudert, Marie-Christine de Vernejoul, Maurizio Muraca, Andrea Del Fattore

“…Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function. …”
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Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee by Heidi A. Worth, Zachary Marlette, David Aljadir, Ronald Lands

“…While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians. The result is often an expensive, invasive evaluation for iron overload, followed by a well-intended prescription for a series of phlebotomies that delivers morbidity instead of benefit. …”
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Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment by T. Mikalauskas, B. Burnytė

“…The disease can present in many ways, from an asymptomatic form to a life dependent on a wheelchair, so it is important for doctors to keep up to date with the latest information so they can identify this genetic disorder faster and help the patient live a full life. …”
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Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review by Qing He, Yi Deng, Lei Xu, Zhe Xu, Yi Ding, Menghui Wu

“…Abstract Background Floating Harbor syndrome (FHS) is a rare genetic disorder with over 100 reported cases worldwide and less than 30 treated with recombinant human growth hormone (rhGH). …”
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Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome by Arina Bingeliene, Colin M. Shapiro, Sharon A. Chung

“…Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, mental retardation, hypotonia, functionally deficient gonads, and uncontrolled appetite leading to extreme obesity at an early age. …”
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Macular Hole of the Left Eye in a 41-year-old Patient with Retinitis pigmentosa. A Case Report by Bożena Kmak, Tomasz Siewierski, Anna Szot, Sebastian Sirek

“…Retinitis pigmentosa is a genetic disorder, therefore genetic counseling and screening of family members for retinitis pigmentosa is important. …”
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Beyond Benign: A Case of Subependymal Giant Cell Astrocytomas Provoking Hydrocephalus in Tuberous Sclerosis Complex by Antonio Navarro-Ballester, Rosa Álvaro-Ballester, Miguel Ángel Lara-Martínez

“… 22-year-old male diagnosed with Tuberous Sclerosis Complex (TSC), a genetic disorder characterized by benign tumors in various organs, with a focus on neurological implications. …”
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Epidural Anesthesia for Cesarean Section in a Pregnant Woman with Marfan Syndrome and Dural Ectasia by Franco Pepe, Mariagrazia Stracquadanio, Francesco De Luca, Agata Privitera, Elisabetta Sanalitro, Puccio Scarpinati

“…Marfan syndrome (MFS) is a genetic disorder of connective tissue, characterized by variable clinical features and multisystem complications. …”
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Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome by Yueli Wang, Xiaoyan Li, Rongjuan Li, Ya Yang, Jie Du

“…Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. …”
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Dental Treatment of a Child with Pallister-Killian Syndrome by Serhan Didinen, Didem Atabek, Gülay Kip, Aslı Patır Münevveroğlu, Özlem Tulunoğlu

“…The Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder with an incidence estimated around 1/25000. …”
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Prader-Willi Syndrome: Clinical Aspects by Grechi Elena, Cammarata Bruna, Mariani Benedetta, Di Candia Stefania, Chiumello Giuseppe

“…Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient’s life. …”
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A Hybrid Approach of Using Wavelets and Fuzzy Clustering for Classifying Multispectral Florescence In Situ Hybridization Images by Yu-Ping Wang, Ashok Kumar Dandpat

“…The increased accuracy of pixel-wise classification will improve the reliability of the M-FISH imaging technique in identifying subtle and cryptic chromosomal abnormalities for cancer diagnosis and genetic disorder research.…”
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Unbinding of alpha chain of hemoglobin in sickle and normal structures by Jhulan Powrel, Rajendra Prasad Koirala, Narayan Prasad Adhikari

“…Sickle cell disease, a genetic disorder, is caused by a mutation of glutamic acid into valine in β chain of hemoglobin at the sixth residue, resulting in structural change of the entire hemoglobin molecule into a sickle shape. …”
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Trichostatin A suppresses hearing loss by reducing oxidative stress and inflammation in an Alport syndrome model. by Yoon Seok Nam, Eun-Ji Gi, Yoo-Seung Ko, Sungsu Lee, Hyong-Ho Cho

“…Alport syndrome (AS) is a genetic disorder marked by mutations in type IV collagen, leading to kidney glomerular dysfunction. …”
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Total shoulder arthroplasty in a patient with osteopetrosis: A case report by Ryan C. Rizk, MS, Elias Lugo-Fagundo, BS, Mohammad Yasrab, MD, Edmund M Weisberg, MS, MBE, Linda C. Chu, MD, John M. Gross, MD, Elliot K. Fishman, MD

“…Osteopetrosis is a rare genetic disorder that leads to increased bone density and fragility due to dysfunctional osteoclasts, which can result in narrowed bone marrow spaces, hardened cartilage, and brittle bones. …”
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