Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia by Jessica Obst, Fabian N. Fries, Maryam Amini, Annamária Náray, Cristian Munteanu, Tanja Stachon, Shweta Suiwal, Neil Lagali, Berthold Seitz, Barbara Käsmann-Kellner, Nóra Szentmáry

“…Results Data from 337 patients (mean age 22 ± 20 [0.3–90] years; 181 women [53.7%]) were analyzed. Genetic testing was performed in 187 (55.5%) patients. …”
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Hyperkalemia Induced Brugada Phenocopy: A Rare ECG Manifestation by Muhammad Ameen, Ghulam Akbar, Naeem Abbas, Ghazi Mirrani

“…Brugada syndrome (BrS) is an inherited disorder of cardiac ion channels characterized by peculiar ECG findings predisposing individuals to ventricular arrhythmias, syncope, and sudden cardiac death (SCD). …”
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Plotting of Ethylene Glycol Blood Concentrations Using Linear Regression before and during Hemodialysis in a Case of Intoxication and Pharmacokinetic Review by Youngho Kim

“…A 55-year-old female with past medical history of seizure disorder, bipolar disorder, and chronic pain was admitted due to severe agitation. …”
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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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Williams Syndrome with a “Twist” by Despoina Maritsi, Lydia Kossiva, George Vartzelis

“…Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. …”
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Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment by Parvaneh Karimzade, Aziz Eghbali, Mohammad Keramatipour, Reza Shiari, Zahra Golchehre, Mahdieh Taghizadeh, Mazdak Fallahi, Shahrzad Fallah, Nasrin Khakbazan Fard, Narges Eslami, Narges Bazgir, Mahnaz Jamee, Zahra Chavoshzadeh

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Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report by Yizhuo Shu, Xiaoling Chen, Zhuoqun Wei, Chunyue Chen

“…Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or BCL11A -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. …”
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Problems with studying directional natural selection in humans by S. V. Mikhailova

“…In particular, several articles have shown a positive correlation of fertility with polygenic risk scores of attention deficit/hyperactivity disorder.…”
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Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1 by Philippos Gourzis, Maria Skokou, Panagiotis Polychronopoulos, Evanthia Soubasi, Irene-Eva Triantaphyllidou, Christos Aravidis, Antonia-Ioanna Sarela, Zoe Kosmaidou

“…Frontotemporal dementia is a disorder of complex etiology, with genetic components contributing to the disease. …”
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Chronic Benign Tubular Albuminuria From Compound Heterozygous Variants in : A Case Report by Adam Pietrobon, Mark D. Elliott

“…Mutations in CUBN lead to Imerslund-Gräsbeck syndrome (IGS), a disorder characterized by vitamin B12 deficiency (and consequences related to that) with or without albuminuria. …”
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Generalized Lichen Nitidus in Identical Twins by Alexander K. C. Leung, Jeffrey Ng

“…The familial occurrence of lichen nitidus suggests that a genetic factor may be operative.…”
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Episodic Behavioural Regression in an 8-Year-Old Female: Sequelae of 22q11.2 Duplication Syndrome by A. Bahji, S. Khalid-Khan

“…22q11.2 duplication syndrome is a recently discovered genetic syndrome with unclear neuropsychiatric sequelae. …”
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A Rare Clinical Case of Oral White Sponge Nevus and the Associated Challenges in Its Differential Diagnosis by E. Deliverska, Marusya Genadieva, B. Yordanov, J. Kirilova

“…White sponge nevus is a rare genetic autosomal dominant disorder characterized by irregular patches of thick, white diffuse plaques, which mainly affects the oral mucosa and, very rarely, the skin or mucosa of the nose, esophagus, and anogenital region. …”
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A Survey of the Pain Experienced by Males and Females with Fabry Disease by Andrea L Gibas, Regan Klatt, Jack Johnson, Joe TR Clarke, Joel Katz

“…BACKGROUND: The clinical onset of Fabry disease, a rare, X-linked, multisystemic disorder, is marked by neuropathic pain. Males suffer extensively from this disease. …”
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Iniencephaly and Holoprosencephaly: Report of a Rare Association by Aytekin Tokmak, Hakan Timur, Korkut Dağlar, Özgür Kara

“…The family declined an autopsy and genetic counseling. In this case, genetics and environmental causes, including lower socioeconomic status and lack of folic acid supplementation, may be risk factors for the current disorder. …”
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Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability by Baoqiong Liao, Baoqiong Liao, Wuming Xie, Shuwen He

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Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

“…Abstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. …”
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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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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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