Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant
Sign Up to like & getrecommendations! Published in 2021 at "Brain and Development"
DOI: 10.1016/j.braindev.2020.12.020
Abstract: Two brothers with an IQSEC2 pathogenic variant presented with early onset intellectual disability, intractable epileptic seizures, autism spectrum disorders, postnatal microcephalus and slowly progressive rigid-spasticity. Their epileptic seizures were characterized by intractability, early onset epileptic… read more here.
Keywords: brothers iqsec2; two brothers; pathogenic variant; variant ... See more keywords
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1686158
Abstract: ABSTRACT Background: Patients with intellectual disability syndromes frequently have coexisting abnormalities of ocular structures and the visual pathway system. The microphthalmos, anophthalmos, and coloboma (MAC) spectrum represent structural developmental eye defects that occur as part… read more here.
Keywords: microphthalmos anophthalmos; intellectual disability; two brothers; anophthalmos coloboma ... See more keywords
Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14277
Abstract: Acromesomelic dysplasias (AMD) are a group of skeletal dysplasia characterized by shortening of the middle and distal segments of the limbs. Recently, biallelic PRKG2 variants have been reported to cause a new type of AMD.… read more here.
Keywords: natural history; two brothers; short stature; prkg2 ... See more keywords
Cowpox virus infection in two brothers with possible human‐to‐human transmission
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.15103
Abstract: Two brothers from countryside were admitted to our centre with history of necrotic ulcers. Both of them were treated with oral and intravenous antibiotics, but treatment was ineffective. A 12-year-old boy had lesions on his… read more here.
Keywords: cowpox virus; two brothers; infection two; brothers possible ... See more keywords
Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2017.01892
Abstract: Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition. Variants in different genes have been associated with the familial forms of the syndrome (FHL), usually presenting within the first 2 years of life. Due to increasing… read more here.
Keywords: two brothers; brothers atypical; hemophagocytic lymphohistiocytosis; massive lung ... See more keywords
Fabry disease in two brothers with proteinuria: A case report and Fabry disease review .
Sign Up to like & getrecommendations! Published in 2020 at "Clinical nephrology"
DOI: 10.5414/cn109908
Abstract: Fabry disease is an X-linked lysosomal storage disease characterized by alpha-galactosidase A (α-Gal A) enzyme deficiency. It can present with a variety of clinical manifestations ranging from complaints of extremity numbness and tingling to end-stage… read more here.
Keywords: fabry disease; diagnosis; two brothers; review ... See more keywords