Growth hormone treatment in congenital tufting enteropathy: a case report and literature review by Mehmet Ali Oktay, Mahmut Orhun Çamurdan, Ödül Eğritaş Gürkan, Başak Alan Tehçi, Esra Döğer, Aysun Bideci

“…CTE is a rare autosomal recessive enteropathy that typically presents with persistent diarrhea. …”
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Simple Meets Single: The Application of CRISPR/Cas9 in Haploid Embryonic Stem Cells by Zixi Yin, Lingyi Chen

“…Mammalian haploid embryonic stem cells (haESCs) have only one set of chromosomes per cell, avoiding the issue of heterozygous recessive mutations in diploid cells. Thus, the combination of haESCs and CRISPR/Cas9 facilitates the generation of genome-wide knockout cell libraries for genetic screening. …”
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Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

“…Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. …”
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Out-of-Sample Predictability of the Equity Risk Premium by Daniel de Almeida, Ana-Maria Fuertes, Luiz Koodi Hotta

“…Acknowledging the different predictability of the equity premium in expansions and recessions, this paper proposes an approach that combines equity premium forecasts from two-state regression models using an agreement technical indicator as the observable state variable. …”
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Allgrove syndrome in endocrinology: Difficulties of diagnosis and treatment features. Case report by Uliana V. Buyvalenko, Anna R. Levshina, Anna K. Eremkina, Kseniya A. Komshilova, Nadezhda M. Platonova

“…Allgrove syndrome is a rare autosomal recessive disorder characterized by the achalasia, alacrimia, adrenal insufficiency, which gave the additional and more recognizable name of this pathology – “Triple-A syndrome”. …”
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Histological Findings of ETosis in Hermansky-Pudlak Syndrome with Pulmonary Fibrosis: A Follow-Up Case Report by Sergio Michael Navarro, Aneel Ashrani, Myung Soo Park, Dong Chen

“…Hermansky-Pudlak syndrome (HPS), both alone and in conjunction with pulmonary fibrosis (HPS-PF), is a rare, genetically heterogeneous, autosomal recessive disorder that affects multiple organs, including the lungs. …”

Congenital Aplasia Cutis. A Series of Three Cases by Elsy Roxana Geroy Moya, María Elena Quiñones Hernández, Ángel Serafín Camacho Gómez

“…It can appear in isolation or as part of several polymalformative syndromes, observing autosomal recessive and autosomal dominant inheritance patterns. …”
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A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia by Taishi Fujisawa, Yoshiyasu Aizawa, Yoshinori Katsumata, Akihiro Udo, Shogo Ito, Kazumasa Hatakeyama, Makoto Hirose, Hiroshi Miyama, Kazuaki Nakajima, Takahiko Nishiyama, Takehiro Kimura, Masamitsu Nitta, Kazuo Misumi, Seiji Takatsuki, Kenjiro Kosaki, Keiichi Fukuda

“…Here we present a Japanese patient with a recessive form of CPVT.…”
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Successful Aortic Aneurysm Repair in a Woman with Severe von Willebrand (Type 3) Disease by Victoria Campbell, Kevin Marriott, Rex Stanbridge, Abdul Shlebak

“…It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms. …”
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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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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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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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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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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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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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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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