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  1. 1781
    por Yang, Jing, Liu, Yan
    Publicado 2021
    “…BACKGROUND: Autosomal recessive hyper-IgE syndrome (AR-HIES) caused by DOCK8 gene is a rare immunodeficiency disease, the main clinical manifestations include recurrent Eczema-like rash, skin and lung abscesses, accompanied with increased serum IgE level. …”
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    Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report
  2. 1782
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    Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy
  3. 1783
    “…This is the first report of a recessive mutation in TNNI3K and the first mutation in this gene identified in the Pakistani population.…”
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    A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family
  4. 1784
    “…X-Linked recessive chondrodysplasia punctata (CDPX1) is a rare skeletal dysplasia characterized by stippled epiphyses, brachytelephalangy, and nasomaxillary hypoplasia. …”
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    Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE
  5. 1785
    “…Conclusion: Herein, we report a novel variant in GLI1 gene, causing autosomal recessive post-axial polydactyly type A (PAPA) type 8. …”
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    A Novel Homozygous Missense Mutation in the Zinc Finger DNA Binding Domain of GLI1 Causes Recessive Post-Axial Polydactyly
  6. 1786
    “…BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a rare severe hepatorenal disease. …”
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    Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease—are patient-centered outcomes our blind spot?
  7. 1787
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    Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease
  8. 1788
    “…To date, two reports have linked Mesoderm Development LRP Chaperone (MESD) to autosomal recessive OI type XX. Four different biallelic pathogenic variants in MESD were shown to cause a progressively deforming phenotype, associated with recurrent fractures and oligodontia in five individuals in five families. …”
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    Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
  9. 1789
    “…The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype–phenotype correlation in the majority of cases. …”
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    A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case
  10. 1790
    “…From them, 80% correspond to autosomal recessive inheritance deafness. Autosomal recessive deafness was not studied enough at the molecular level in Iraq. …”
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    Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population
  11. 1791
    “…BACKGROUND: Autosomal recessive familial hypercholesterolemia (ARH) is a very rare lipid metabolic monogenic disorder caused by homozygosity or compound heterozygosity for mutations in the low-density lipoprotein receptor adapter protein 1 (LDLRAP1) gene. …”
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    Autosomal Recessive Hypercholesterolemia Caused by a Novel LDLRAP1 Variant and Membranous Nephropathy in a Chinese Girl: A Case Report
  12. 1792
    “…The double papilla technique for root covering is a periodontal plastic surgery technique recommended for the treatment of gingival recessions. In this case report, we show the clinical results after a 12-month follow-up of a root-covering procedure in an upper canine affected by a gingival recession. …”
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    Treatment of a single gingival recession with a subepithelial connective tissue graft with a double papilla flap: A case report
  13. 1793
    “…We describe a novel recessive disease-causing TMC1 c.968A>G, p.(Tyr323Cys) variant. …”
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    Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants
  14. 1794
    “…Gingival recessions are a prevalent oral mucosa alteration. To solve this pathology, palatal mucosa or polymeric soft tissue substitutes are used when performing coronal advanced flap (CAF) or tunnel (TUN) surgical techniques. …”
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    Treating Gingival Recessions Using Coronally Advanced Flap or Tunnel Techniques with Autografts or Polymeric Substitutes: A Systematic Review and Meta-Analysis
  15. 1795
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    First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers
  16. 1796
    “…OBJECTIVES: The aim of this cross-sectional study was to provide estimate of mid-buccal gingival recession (GR) according to the 2018 World Workshop Classification System and to explore GR risk indicators in a representative urban population in North-West of Italy. …”
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    Estimates and multivariable risk assessment of mid-buccal gingival recessions in an Italian adult population according to the 2018 World Workshop Classification System
  17. 1797
    “…Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hereditary rickets, which is characterized by defective bone mineralization and renal phosphate wasting due to a loss-of-function variant in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene. …”
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    Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
  18. 1798
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    A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B
  19. 1799
    “…Autosomal-dominant osteopetrosis type II (ADOII) is most often caused by mutation of the CLCN7 gene leading to impaired bone resorption. Autosomal recessive osteopetrosis (ARO) is a more severe form and is frequently accompanied by additional morbidities. …”
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    A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene
  20. 1800
    “…The primary outcome variables were mean recession coverage (MRC) and reduction of the recession depth (RecRed). …”
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    Hyaluronic Acid as an Adjunct to Coronally Advanced Flap Procedures for Gingival Recessions: A Systematic Review and Meta—Analysis of Randomized Clinical Trials
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