Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.725
Abstract: Mitochondrial methionyl‐tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. Pathogenic variants in MTFMT have been associated with Leigh syndrome (LS) and mitochondrial multiple respiratory chain deficiencies. We… read more here.
Keywords: leigh syndrome; syndrome caused; mutations mtfmt; mtfmt associated ... See more keywords
Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1600
Abstract: Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in the SPINK5 gene. Here, we report the first case of NS caused by a large genomic deletion. read more here.
Keywords: netherton syndrome; genomic deletion; syndrome caused; mutation ... See more keywords
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.518
Abstract: Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic… read more here.
Keywords: syndrome caused; dominant marfan; marfan syndrome; autosomal dominant ... See more keywords
Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene
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DOI: 10.1002/pd.6249
Abstract: A couple were referred for prenatal genetic testing at 31 weeks' gestation due to the presence of mild polyhydramnios and multiple central nervous system (CNS) abnormalities, including borderline ventriculomegaly, possible delayed sulcation, an enlarged cisterna… read more here.
Keywords: diagnosis perching; caused homozygous; diagnosis; syndrome caused ... See more keywords
MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0576-x
Abstract: To the Editor: A 43-year-old woman was referred to the Autoimmune Diseases Unit in 2012 because of anti-nuclear antibody (ANA) positivity detected on Hep2 cells (1:160, homogenous pattern). There was no family history of autoimmune… read more here.
Keywords: biopsy; syndrome caused; normal range; caused novel ... See more keywords
Posterior reversible encephalopathy syndrome caused by cerebral amyloid angiopathy-related inflammation
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-019-01172-w
Abstract: A 71-year-old-female, with history of two episodes of transient headache and confusion with normal brain MRI and neuropsychological investigation, presented at the outpatient clinic with a new episode of headache and forgetfulness since 3 weeks.… read more here.
Keywords: encephalopathy syndrome; syndrome caused; caused cerebral; posterior reversible ... See more keywords
Brugada Syndrome Caused by Sodium Channel Dysfunction Associated with a SCN1B Variant A197V.
Sign Up to like & getrecommendations! Published in 2020 at "Archives of medical research"
DOI: 10.1016/j.arcmed.2020.02.003
Abstract: OBJECTIVE We aimed to identify and characterize a SCN1B variant, A197V, associated with Brugada Syndrome (BrS). METHODS Whole-exome sequencing was employed to explore the potential causative genes in 8 unrelated clinically diagnosed BrS patients. A197V… read more here.
Keywords: syndrome caused; brugada syndrome; scn1b variant; channel ... See more keywords
Carpal tunnel syndrome caused by a giant lipoma of the hand: A case report
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2021.105647
Abstract: Highlights • Giant lipomas of the hand are a rare cause of carpal tunnel syndrome.• A preoperative MRI scan should be performed.• Rapid en bloc excision is necessary in case of compression of underlying tissues. read more here.
Keywords: syndrome caused; case; hand; tunnel syndrome ... See more keywords
Potential use of Citrus essential oils against acute respiratory syndrome caused by coronavirus
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Essential Oil Research"
DOI: 10.1080/10412905.2021.1912839
Abstract: ABSTRACT The treatments being investigated for the pandemic associated with a severe acute respiratory syndrome caused by the new coronavirus (SARS-CoV2) aim to inhibit viral replication or inhibit enzymatic elastase in the lung, responsible for… read more here.
Keywords: respiratory syndrome; citrus essential; syndrome caused; acute respiratory ... See more keywords
Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings
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DOI: 10.1080/13816810.2021.1923033
Abstract: ABSTRACT Background Heimler syndrome (OMIM number #234580 and #616617) is a rare condition comprising sensorineural hearing loss (SNHL), nail abnormalities and amelogenesis imperfecta. In addition, patients with this syndrome can have retinal dystrophies. Heimler syndrome… read more here.
Keywords: syndrome caused; heimler syndrome; caused pex1; two siblings ... See more keywords
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2068044
Abstract: ABSTRACT Background The aim is to determine the retinal changes in patients with Stickler syndrome caused by a p.R565C missense mutation of the COL2A1 gene. Methods We reviewed the clinical records of 10 eyes of… read more here.
Keywords: degeneration; syndrome caused; missense mutation; mutation col2a1 ... See more keywords