Cohen syndrome in two patients from China
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2053
Abstract: Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early‐onset hypotonia and developmental delays, intellectual disabilities, microcephaly, hypermobile joints, neutropenia, myopia, and characteristic facial features. The disease… read more here.
Keywords: cohen syndrome; two patients; patients china; syndrome two ... See more keywords
EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2019.05.006
Abstract: OBJECTIVES Branchio-Oto (BO) syndrome is one of the common syndromic forms of hearing loss. In this study, we aimed to characterize the clinical and genetic features of BO syndrome in two Chinese Han deaf families.… read more here.
Keywords: oto syndrome; branchio oto; chinese han; syndrome two ... See more keywords
Immunodeficiency and Thymoma in Good Syndrome: Two Sides of the Same Coin.
Sign Up to like & getrecommendations! Published in 2021 at "Immunology letters"
DOI: 10.1016/j.imlet.2020.12.010
Abstract: Good Syndrome is a rare clinical entity first described as the conjunction of thymoma and hypogammaglobulinemia, and more recently depicted as a complex disease integrating a medical history of thymoma with humoral immunodeficiency (more accurately… read more here.
Keywords: syndrome two; good syndrome; immunodeficiency thymoma; syndrome ... See more keywords
A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.30
Abstract: Bernard–Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is a fourth-generation Brazilian of Japanese descent and… read more here.
Keywords: syndrome two; bernard soulier; soulier syndrome; case bernard ... See more keywords
SMART syndrome: two cases highlighting a complex and rare complication of brain irradiation
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-249599
Abstract: Stroke-like migraine attacks after radiation therapy (SMART) syndrome is a rare complication of radiotherapy with complex neurological impairment. Patients present with neurological symptoms and signs such as migraine, hemianopsia, hemiplegia, aphasia and/or seizures—without recurrence of… read more here.
Keywords: syndrome two; brain irradiation; rare complication; smart syndrome ... See more keywords
Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of pediatric ophthalmology and strabismus"
DOI: 10.3928/01913913-20230220-01
Abstract: PURPOSE To report two new cases with confirmed diagnosis of Heimler syndrome and describe their systemic and ophthalmic phenotype and visual rehabilitation. METHODS Retrospective review of medical records. RESULTS Both siblings were diagnosed as having… read more here.
Keywords: heimler syndrome; ophthalmic manifestations; manifestations heimler; two siblings ... See more keywords