High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population by Hongyang Wang, Dan Bing, Jin Li, Linyi Xie, Fen Xiong, Lan Lan, Dayong Wang, Jing Guan, Qiuju Wang

“…In addition to the X-linked recessive inheritance pattern, the X-linked dominant inheritance pattern is also observed in AIFM1-related AN and affects females. …”
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Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome by Nicholas Beckmann

“…Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. …”
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Regional sonology of the upper limb - II: Wrist and hand by Bipin R Shah, Ankit B Shah

“…Successful scanning of the wrist and hand requires good scanning equipment, thorough knowledge of anatomy and scanning protocols. The dorsal recesses of the wrist, metacarpophalangeal joint, proximal interphalangeal joint and the distal interphalangeal joint are scanned to look for joint effusion, synovial hypertrophy and cortical erosions. …”
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Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia by Osama Obaid, Reem Batawi, Heba Alqurashi, Thana Ewis, Ahmad A. Obaid

“…Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. …”
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T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature by Kwo Wei David Ho, Nivedita U. Jerath

“…Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. …”
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Tofersen and other antisense oligonucleotides in ALS by Albert Ludolph, Maximilian Wiesenfarth

“…Nusinersen treatment was a breakthrough intervention in the recessive disease spinal muscular atrophy, and superoxide dismutase 1 (SOD1) amyotrophic lateral sclerosis (ALS) seems to be the paradigm disease in dominant degenerative diseases. …”
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Corps embryoïdes : biologie moléculaire et cellules vivantes by Noémie Merleau-Ponty

“…Embryoid bodies are constructed laboratory materials that are also steeped in emotions and profit margins, pasts and futures, in the recesses of which beats the organic pulse of the living.…”
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Epidermodysplasia Verruciformis: A Clinicopathologic Review of Two Cases by Tummidi Santosh, Tanya Sharma, Deepti Joshi, Dinesh Prasad Asati, Sanjeev Vijay Choudhary, Neelkamal Kapoor

“…Epidermodysplasia verruciformis (EV) is a rare autosomal recessive disease involving the immune system. It presents as pityriasis versicolor-like or warty papules, the onset being from early childhood at the face, dorsum of hands and feet. …”
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Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation by Sanjanaa Srinivasa, Sumedha Ballal, Preetha Tilak, Savitha Murali, Madhukara Jithendriya

“…Papillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. …”
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Camptocormia as a feature of Mc Ardle's disease: A case report by Mathilde Nicolas, Chloé Giret, Sybille Pellieux, Annick Toutain, Anne-Marie Bergemer-Fouquet, Pascal Laforêt, Loic Bouilleau, François Maillot

“…Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. …”
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TCA Cycle Defects and Cancer: When Metabolism Tunes Redox State by Simone Cardaci, Maria Rosa Ciriolo

“…Until recently, only recessive mutations were described which, although resulted in severe multisystem syndromes, did not predispose to cancer onset. …”
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Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults by Marco Nezzo, Pieter De Visschere, Guy T'Sjoen, Steven Weyers, Geert Villeirs

“…Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype. …”
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Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granul... by Sanem Eren Akarcan, Neslihan Karaca, Guzide Aksu, Halil Bozkaya, Mehmet Fatih Ayik, Yasemin Ozdemir Sahan, Mehmet Arda Kilinc, Zafer Dokumcu, Cenk Eraslan, Emre Divarci, Hudaver Alper, Necil Kutukculer

“…A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting p22phox protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. …”
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First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis by Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu

“…Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. …”
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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis by Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki

“…ABSTRACT Background Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. …”
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Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency by Nadia Charfi, Mahdi Kamoun, Mouna Feki Mnif, Neila Mseddi, Fatma Mnif, Nozha Kallel, Basma Ben Naceur, Nabila Rekik, Hela Fourati, Emna Daoud, Zainab Mnif, Mourad Hadj Sliman, Tahia Sellami-Boudawara, Mohamed Abid

“…Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. …”
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An Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome by JayaKrishna Chintanaboina, Pragnesh R. Shah, Thomas R. Riley

“…One patient had sitosterolemia, a rare inherited autosomal recessive disorder of cholesterol metabolism, after she ingested β-sitosterol supplement and had worsening liver function tests and lipid panel. …”
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Pulmonary Alveolar Microlithiasis and Rheumatoid Arthritis: A Case Report and Review of the Literature by Waleed Hafiz, Ahmedhusam Alahmed, Mohammed Alahmadi, Rakan Alotaibi, Abdullah Alsharif, Safwan Alim, Mohammed Mokhtar, Kholoud Al-Maabdi, Omaima Badr

“…Pulmonary alveolar microlithiasis is a rare autosomal recessive condition that is characterized by the formation of excessive calcium phosphate microliths in the alveoli. …”
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Genotype Variations and Association between PAI-1 Promoter Region (4G/5G and -844G/A) and Susceptibility to Acute Myocardial Infarction and Chronic Stable Angina by Sunil Kumar, Amit Kumar Verma, Vinay Sagar, Ravi Ranjan, Rahul Sharma, Preeti Tomar, Deepti Bhatt, Yamini Goyal, Mohammed A. Alsahli, Ahmad Almatroudi, Saleh A. Almatroodi, Arshad Husain Rahmani, Faris Alrumaihi, Khursheed Muzammil, Kapil Dev, Rakesh Yadav, Renu Saxena

“…Also, we did not detect any significant association of -844G/A polymorphism with AMI and CSA in recessive, dominant, and codominant models. Along with the traditional risk factors, the 4G/5G allele polymorphism is an independent risk factor for the development of AMI. …”
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Genetic inbreeding load and its individual prediction for milk yield in French dairy sheep by Simona Antonios, Silvia T. Rodríguez-Ramilo, Andres Legarra, Jean-Michel Astruc, Luis Varona, Zulma G. Vitezica

“…Abstract Background The magnitude of inbreeding depression depends on the recessive burden of the individual, which can be traced back to the hidden (recessive) inbreeding load among ancestors. …”
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