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   Articles with "new entity" as a keyword



A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype.

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recommendations! Published in 2022 at "Journal of tropical pediatrics"

DOI: 10.1093/tropej/fmac108

Abstract: NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type… read more here.

Keywords: new entity; type; variant; type diabetes ... See more keywords
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EBV+ mucocutaneous ulcer: a new entity of WHO 2017.

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recommendations! Published in 2018 at "Blood"

DOI: 10.1182/blood-2018-01-825570

Abstract: ![Figure][1] A 79-year-old apparently healthy man presented with an isolated, persistent oral lesion. On examination, a single, well-circumscribed ulcerative gingival lesion was identified measuring ∼1 cm (panel A). No systemic lymphadenopathy or hepatosplenomegaly was identified.… read more here.

Keywords: ebv mucocutaneous; ulcer new; mucocutaneous ulcer; new entity ... See more keywords

S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis‐like syndrome

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recommendations! Published in 2022 at "EMBO Molecular Medicine"

DOI: 10.15252/emmm.202114904

Abstract: In this report, we discovered a new entity named cataract, alopecia, oral mucosal disorder, and psoriasis‐like (CAOP) syndrome in two unrelated and ethnically diverse patients. Furthermore, patient 1 failed to respond to regular treatment. We… read more here.

Keywords: new entity; s1p; cataract alopecia; oral mucosal ... See more keywords

A new entity of hypomyelination with atrophy of basal ganglia and cerebellum-like syndrome with bilateral developmental cataract

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recommendations! Published in 2022 at "Indian Journal of Ophthalmology"

DOI: 10.4103/ijo.ijo_1031_21

Abstract: Figure 2: MRI brain showing hyposignal in T1, hypersignal in T2 and flair of symmetrical distribution, compromising diffusely the cerebral and cerebellar white matter, corpus callosum and internal capsule, as well as the brain stem,… read more here.

Keywords: atrophy basal; new entity; entity hypomyelination; basal ganglia ... See more keywords

New Entity of Skull Lesions due to Birth Trauma: Kanat (Wing) Fractures.

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recommendations! Published in 2018 at "Turkish neurosurgery"

DOI: 10.5137/1019-5149.jtn.22260-17.2

Abstract: AIM To discuss a special type of skull lesion detected after delivery. We reviewed our experience on scalp swelling in term neonates to further investigate the relationship between cranial injuries and labor process. MATERIAL AND… read more here.

Keywords: labor; birth; kanat fractures; new entity ... See more keywords