A novel frameshift mutation of DVL1 ‐induced Robinow syndrome: A case report and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1886
Abstract: Robinow syndrome is a rare genetic disorder that affects the development of multiple systems. Due to its low prevalence and diversity of phenotypic presentation it has been challenging to definitively characterize features of Robinow syndrome. read more here.
Keywords: mutation dvl1; robinow syndrome; novel frameshift; dvl1 induced ... See more keywords
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Biology Reports"
DOI: 10.1007/s11033-019-04688-9
Abstract: NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a transcription factor encoded by DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) responsible for the development and maintenance of… read more here.
Keywords: age; hhg; age years; frameshift mutation ... See more keywords
A novel frameshift COL3A1 variant in vascular Ehlers-Danlos syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Annals of vascular surgery"
DOI: 10.1016/j.avsg.2019.05.057
Abstract: Ehlers-Danlos Syndromes (EDS) are a group of heritable connective tissue disorders with distinct genetic etiologies. Of the 13 currently recognized types of EDS, the vascular type (vEDS), is generally considered the most severe and is… read more here.
Keywords: novel frameshift; col3a1 variant; ehlers danlos; frameshift col3a1 ... See more keywords
A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1710330
Abstract: De novo heterozygous mutations in the KAT6A gene give rise to a distinct intellectual disability syndrome, with features including speech delay, cardiac anomalies, craniofacial dysmorphisms, and craniosynostosis. Here, we reported a 16-year-old girl with a… read more here.
Keywords: mutation kat6a; kat6a associated; pancraniosynostosis; frameshift mutation ... See more keywords
A Novel Frameshift Mutation at Codon 2 (–T) (HBB: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan
Sign Up to like & getrecommendations! Published in 2019 at "Hemoglobin"
DOI: 10.1080/03630269.2019.1657886
Abstract: Abstract We identified a novel mutation of β-thalassemia (β-thal) in a heterozygous carrier from Azerbaijan. Phenotypical data and molecular mechanisms of codon 2 (–T) (HBB: c.9delT) was relevant to β0-thal. Additionally, we here report two… read more here.
Keywords: codon hbb; hbb 9delt; frameshift mutation; novel frameshift ... See more keywords
Bart’s Syndrome with Novel Frameshift Mutations in the COL7A1 Gene
Sign Up to like & getrecommendations! Published in 2019 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2018.1543370
Abstract: Abstract Introduction: Bart’s syndrome, a hereditary mechanobullous disorder characterized by aplasia cutis congenita (ACC) with epidermolysis bullosa (EB), has not been genotyped frequently. Case report: A full-term female neonate had well-demarcated absence of skin on… read more here.
Keywords: novel frameshift; bart syndrome; frameshift mutations; mutations col7a1 ... See more keywords
A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker–Young–Simpson syndrome phenotype
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000376
Abstract: Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon and Department of Pediatric Endocrinology, Erzurum City Hospital, Erzurum, Turkey Correspondence to Ayberk Turkyilmaz, MD, Department of Medical Genetics, Karadeniz Technical University Faculty of… read more here.
Keywords: medicine; proximal exon; frameshift variant; genetics ... See more keywords
McLeod syndrome with a novel XK frameshift mutation
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000028996
Abstract: Abstract Rationale: McLeod syndrome (MLS) is a rare X-linked neurohematologic disorder caused by loss-of-function mutations in the XK gene. However, variations in the XK gene remain to be elucidated. Here, we report the clinical phenotype… read more here.
Keywords: mcleod syndrome; frameshift mutation; novel frameshift;
A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.14332
Abstract: Dyschromatosis symmetrica hereditaria (DSH), which characterized by hyper- or hypopigmented macules on the dorsal aspect of distal extremities and freckle-like macules on the face, is a rare pigmented genodermatosis that usually restricted to the skin.… read more here.
Keywords: dyschromatosis symmetrica; adar1 gene; frameshift mutation; novel frameshift ... See more keywords
Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B
Sign Up to like & getrecommendations! Published in 2018 at "Endocrine Connections"
DOI: 10.1530/ec-18-0484
Abstract: Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and hypokalemia. Clinically, misdiagnosis or missing diagnosis is common, since clinical phenotypes of LS are variable and nonspecific. We report a… read more here.
Keywords: family; frameshift mutation; novel frameshift; scnn1b ... See more keywords
A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.29271/jcpsp.2018.05.403
Abstract: Roberts syndrome is a very rare autosomal recessive inheritance pattern genetic disorder characterised by symmetric bilateral extremity deformities, midfacial defect, and severe intellectual deficit. These patients also grow slowly prenatal and postnatal. RBS is caused… read more here.
Keywords: roberts syndrome; mutation esco2; novel frameshift; gene ... See more keywords