Low rates of neurological abnormalities in patients with pigmentary mosaicism: A retrospective cohort study from a tertiary dermatology center
Sign Up to like & getrecommendations! Published in 2023 at "Pediatric Dermatology"
DOI: 10.1111/pde.15276
Abstract: Pigmentary mosaicism (PM) is a descriptive term encompassing a range of hyper‐ and hypo‐pigmented phenotypes in various patterns. Information from the neurology literature initially noted neurological abnormalities (NA) in up to 90% of children with… read more here.
Keywords: rates neurological; dermatology; pigmentary mosaicism; neurological abnormalities ... See more keywords
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Diabetes"
DOI: 10.1111/pedi.12669
Abstract: The basic helix‐loop‐helix (bHLH) transcription factor, neuronal differentiation 1 (NEUROD1) (also known as BETA2) is involved in the development of neural elements and endocrine pancreas. Less than 10 reports of adult‐onset non‐insulin‐dependent diabetes mellitus (NIDDM)… read more here.
Keywords: neurological abnormalities; missense mutation; diabetes mellitus; neonatal diabetes ... See more keywords
Variation in prognosis given by fetomaternal units in fetuses with neurological abnormalities
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood: Fetal and Neonatal Edition"
DOI: 10.1136/archdischild-2019-317517
Abstract: The ‘MRI to enhance the diagnosis of fetal developmental brain abnormalities in utero’ (MERIDIAN) study showed improved diagnostic accuracy and confidence for detecting fetal neurological abnormalities compared with ultrasound. The additional information provided by in utero… read more here.
Keywords: neurological abnormalities; fetomaternal units; prognosis given; prognosis ... See more keywords