Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report by Mohamed Ahmed Ghassem, Aziza Mounach, Julien H Djossou, Hamza Toufik, Najlae El Ouardi, Lahsen Achemlal, Ahmed Bezza

“…Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. …”
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Optimizing Bone Health in Duchenne Muscular Dystrophy by Jason L. Buckner, Sasigarn A. Bowden, John D. Mahan

“…Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by progressive muscle weakness, with eventual loss of ambulation and premature death. …”
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The Association between Single-Nucleotide Polymorphisms of ORAI1 Gene and Breast Cancer in a Taiwanese Population by Wei-Chiao Chang, Peng Yeong Woon, Yu-Wen Hsu, Shengyu Yang, Yi-Ching Chiu, Ming Feng Hou

“…Two of the ORAI1 SNPs (rs12320939 and rs12313273) were associated with estrogen receptors positive in breast cancer patients under the recessive model. When the Bonferroni correction was performed, the significance still existed. …”
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Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome by Petra van der Lelij, Anneke B. Oostra, Martin A. Rooimans, Hans Joenje, Johan P. de Winter

“…Fanconi anemia (FA) is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure. …”
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Pontocerebellar hypoplasia: clinical case and literature review by L. Anužis, E. Buivydas, D. Petrova, M. Šukys, R. Gleiznienė

“… Pontocerebellar hypoplasia (PCH) is a group of rare neurodegenerative disorders which start in the intrauterine period and are inherited by autosomal recessive way. Structural changes caused by the mutation include cerebellar hypoplasia or atrophy, microcephalus, and hypoplasia of ventral pons. …”
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Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays by Fuying Chen, Ruoqu Wei, Yumeng Wang, Qiaoyu Cao, Jianbo Wang, Chenfei Wang, Dingjin Yao, Zhirong Yao, Cheng Ni, Ming Li

“…We enrolled 69 cases of recessive JEB, with 13.0% of these cases remained genetically undiagnosed following an initial exome sequencing. …”
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Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients by Ugur Halac, Denise Herzog

“…Bardet-Biedel syndrome (BBS) is a rare autosomal recessive, genetically heterogeneous ciliopathy. Although the disease has been described in a patient with psoriasis, individuals with BBS are not known to be at risk of developing autoimmune disorders. …”
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The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis by Kate H. Cole, Patrick R. Sosnay, Lonny B. Yarmus, Jonathan B. Zuckerman

“…Cystic fibrosis (CF) is an autosomal recessive disease that may be caused by more than 1000 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. …”
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Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study by Hanım Babazade, Tanyel Zubarioglu, Esma Uygur, Mehmet Şerif Cansever, Ertuğrul Kiykim, Çiğdem Aktuğlu Zeybek

“…Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive fatty acid oxidation disorder resulting in energy deficiency due to impaired mitochondrial long-chain fatty acid transport. …”
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Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome by Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi

“…Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. …”
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A CACTA-like transposon in the Anthocyanidin synthase 1 (Ans-1) gene is responsible for apricot fruit colour in the raspberry (Rubus idaeus) cultivar 'Varnes'. by Daniel James Sargent, Matteo Buti, Stefan Martens, Claudio Pugliesi, Kjersti Aaby, Dag Røen, Chandra Bhan Yadav, Felicidad Fernández Fernández, Muath Alsheikh, Jahn Davik, R Jordan Price

“…PCR confirmed the presence in heterozygous form of the transposon in an unrelated, red-fruited cultivar 'Veten', indicating apricot fruit colour is recessive to red and that it may be widespread in raspberry germplasm, potentially explaining why apricot forms appear at regular intervals in modern raspberry breeding populations.…”
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Devising Yorùbá Terminology for Phonology Terms (from letter P to letter R) by Oyetayo A Bankale, Oye Taiwo, Rukayat Olawale

“…Some of the terms developed are palatalization, ìso̩dàfàjàpè, paragoge ìfìró-bò̩parí, parasitic harmony àǹkóò àfòmó̩, parse ìpínsífó̩rán-ìhun, partial overlapping ìwo̩nú-ara e̩lé̩be̩, phonaestheme fóníìmù-àyo̩túnyo̩, phonemic overlapping ìpòórá fóníìmù, phonological phrase boundary ààlà àpólà fonó̩ló̩jì, phonological prime fó̩nrán-akérépin fonó̩ló̩jì, quantity-sensitive feet è̩wo̩n-atéńté aníwò̩n-agbe̩gé̩, recessive vowel fáwè̩lì àdínkù, redundancy rule òfin aléélè̩ [1] See Yoruba – The Journal of Yoruba Studies Association of Nigeria, Volume 12:1, January 2023 and Volume 12:2, June 2023 for the first 2 of the four-part essays. …”
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Antenatal Bartter Syndrome: A Review by Y. Ramesh Bhat, G. Vinayaka, K. Sreelakshmi

“…Antenatal Bartter syndrome (ABS) is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. …”
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A Case Report of Dextrocardia with Situs Inversus: A Rare Condition and Its Clinical Importance by Girma Deshimo, Haile Abebe, Getiye Damtew, Enguday Demeke, Seife Feleke

“…Although the specific cause is uncertain, there is evidence of autosomal recessive and X-linked inheritance. Before seeking treatment for an unrelated ailment, many people with SIT are unaware of their distinct anatomy, as in our case. …”
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Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition by Jonathan W. Nyce

“…The autoinflammatory reaction observed closely resembles mevalonate kinase deficiency (MKD), a rare autosomal recessive disease in humans characterized by recurrent febrile attacks, arthralgia, skin rash, and aphthous ulcers of mucocutaneous tissues. …”
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A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome by Tomoko Tanaka, Catharine J. Harris, Sarah S. Barnett, N. Scott Litofsky

“…Walker-Warburg syndrome (WWS) is a rare autosomal recessive congenital muscular dystrophy with brain malformations and ocular abnormalities that falls under the wider phenotypic spectrum of the dystroglycanopathies. …”
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The measurement reliability and equivalence of print versus online versions of the Youth Activity Profile. by Yang Bai, Philip M Dixon, Pedro F Saint-Maurice, Paul R Hibbing, Gabriella M McLoughlin, Michael Pereira da Silva, Gregory J Welk

“…The two versions were statistically equivalent for most YAP items except for recess.<h4>Conclusion</h4>The online YAP appears to be a reliable assessment of physical activity and sedentary behavior in youth populations.…”
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Neurosurgical aspects of marble bone disease: treatment modalities and outcome by Mahmoud Mohammed Gamal, Roshdy Elkhayat, Hassan Mohammed Hassan

“…Osteopetrosis has 3 types of genetic inheritance either malignant autosomal recessive (ARO) which occur in childhood, intermediate ARO which occur in adolescence, and benign autosomal dominant osteopetrosis which occur in adults. …”
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Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia by Iovana Fuentes Cortés, Beliany Pacheco Suárez, Dulce María Charón Savón

“…<strong>Foundation:</strong> hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. …”
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High-Performance Work System and Employee Counterproductive Work Behavior: The Perspective of Employee Perception by Ling Peng, Jiafu Su, Yupei Du, Muzi Li

“…Employee counterproductive work behavior (ECWB) in the workplace has caused serious harm to the organization, and its recessive occurrence creates difficulty for the organization to guard against it. …”
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