Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report by Şule Çalışkan Kamış, Begül Yağcı

“…Ichthyosis vulgaris (IV) is an inherited disorder characterized by the scaling of the skin. …”
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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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An Overview of DNA Repair in Amyotrophic Lateral Sclerosis by Fabio Coppedè

“…Moreover, biochemical and genetic data on DNA repair in ALS are discussed in light of similar findings in other neurodegenerative diseases.…”
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Rehabilitation of Ectodermal Dysplasia Using CAD/CAM Mandibular Complete Denture and Maxillary Overdenture: A Clinical Report by Hatem Alqarni, Faisal Alzeghaibi, Sahar Alotaibi, Raghad Alamri, Raghad Aljohani, Majed S. Altoman, Mohammed A. Alfaifi

“…Ectodermal dysplasia is a genetic disorder characterized by the abnormal development of two or more ectodermally driven structures, leading to various clinical manifestations such as sparse hair, dry skin, and hypodontia or anodontia. …”
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Epilepsy and preventive antiepileptic treatment in tuberous sclerosis complex. Literature review by I. Kasiulevičiūtė

“… Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the presence of benign tumors in many organs. …”
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Oral Squamous Cell Carcinoma in a Patient with Fanconi Anemia by Milla Huuhka, Aaro Turunen

“…Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by different types of malformations, skin lesions, bone marrow failure, and increased risk for both hematological malignancies and solid tumors, especially head and neck squamous cell carcinomas (HNSCC). …”
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Lung Transplantation in a Patient with COPA Syndrome by Jorge M. Mallea, Anna Kornafeld, Andras Khoor, David B. Erasmus

“…COPA syndrome is a newly discovered, rare genetic autoimmune disorder, which can affect the lungs, joints, and kidneys. …”
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CANDLE syndrome – a narrative review by Aleksandra Snopkowska, Joanna Gołda, Julia Mężyk, Piotr Gacka, Marcin Dołęga

“…Despite therapeutic complexities, recent advancements in genetic testing and targeted therapies, notably Janus kinase inhibitors, offer promising avenues for improved patient outcomes. …”
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Marfan Syndrome: Regarding Two Cases by Elsy Roxana Geroy Moya, María Quiñones Hernández, Anaelys Acosta Hernández

“…Marfan syndrome is an autosomal dominant genetic disorder, with a prevalence of 1 every 5,000-10,000 newborns, so it is classified as an uncommon disease. …”
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A Case of Lacrimo-Auriculo-Dento-Digital Syndrome with Multiple Congenitally Missing Teeth by Lumbini Pathivada, Munagala Karthik Krishna, Mandeep Rallan

“…However, specific symptoms vary greatly among the cases with a high degree of overlap with other similar genetic disorders. Here, we describe a 7-year-old boy with LADD syndrome, clinical and radiological findings, dental treatment undertaken, and its differential diagnosis.…”
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Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency by Katja Dumic, Tony Yuen, Zorana Grubic, Vesna Kusec, Ingeborg Barisic, Maria I. New

“…Mutations in the CYP11B1 gene, which encodes steroid 11β-hydroxylase, are responsible for this autosomal recessive disorder. Here, we describe the molecular genetics of two previously reported male siblings in whom diagnosis of 11β-OHD has been established based on their hormonal profiles displaying high levels of 11-deoxycortisol and hyperandrogenism. …”
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The possible effects of chili peppers on ADHD in relation to the gut microbiota by Yinyue Li, Jing Feng, GuangYao Ding, Lin Deng, Ying He, Qiongqiong Zhang, Jianhui Wang, Xia Chen

“…Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder, which is characterized by inattention, impulsivity and hyperactivity. …”
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Rett syndrome complicated by diabetes mellitus type 1 by Yasutaka Kuniyoshi, Satoru Takahashi

“…A review of her history revealed normal early developmental milestones, including the onset of stereotypical hand movements at 3 years, communication impairment and seizures at 4 years and a diagnosis of autism spectrum disorder. At 10 years of age, genetic testing revealed a pathogenic MECP2 mutation. …”
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Quality of Life in Patients with Melasma by Reza Almasi Ghale, Maryam Nasimi, Saeideh Alidoost, Marjan Talebi, Rouzbeh Almasi Ghale, Mehregan Rahmani, Farkhondeh Pouresmaeili

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Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination by Yoong-A Suh, Jisun Hwang, Go Hun Seo, Rin Khang, Jang Hoon Lee, Moon Sung Park, Young Bae Sohn

“…Deafness, dystonia, and central hypomyelination (DDCH) syndrome (OMIM #300475) is a rare X-linked genetic disorder characterized by developmental delays, deafness, central hypomyelination, and dystonia. …”
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Young Woman with Unexplained Neutropenia and Neutrophils with Bilobed Nuclei: Marrow Findings by Martin Barnes, Victoria Shklar, Dipen Patel, Harry Staszewski

“…Due to our patient’s young age and concern that she may have a more serious marrow disorder, genetic testing was pursued. Germline testing in the LBR gene revealed a heterozygous pathogenic mutation, namely, the PR57837.17 variant, confirming the diagnosis of hereditary disease. …”
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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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Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report by Yuli Zhang, Yuli Zhang, Longfei Chen, Miao Duan

“…Glutaric acidemia type II (GAII) is an autosomal recessive genetic metabolic disorder associated with mitochondrial dysfunction, characterized by multiple acyl-CoA dehydrogenase deficiency that affects fatty acid metabolism. …”
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Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families by Pengcheng Xu, Jun Xu, Hu Peng, Tao Yang

“…Genetic hearing loss is a common sensory disorder, and its cause is highly heterogeneous. …”
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Neuroinflammation in Autism: Plausible Role of Maternal Inflammation, Dietary Omega 3, and Microbiota by Charlotte Madore, Quentin Leyrolle, Chloé Lacabanne, Anouk Benmamar-Badel, Corinne Joffre, Agnes Nadjar, Sophie Layé

“…Several genetic causes of autism spectrum disorder (ASD) have been identified. …”
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