6 research outputs found
Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion
Recent Developments of Magnetoresistive Sensors for Industrial Applications
The research and development in the field of magnetoresistive sensors has played an important role in the last few decades. Here, the authors give an introduction to the fundamentals of the anisotropic magnetoresistive (AMR) and the giant magnetoresistive (GMR) effect as well as an overview of various types of sensors in industrial applications. In addition, the authors present their recent work in this field, ranging from sensor systems fabricated on traditional substrate materials like silicon (Si), over new fabrication techniques for magnetoresistive sensors on flexible substrates for special applications, e.g., a flexible write head for component integrated data storage, micro-stamping of sensors on arbitrary surfaces or three dimensional sensing under extreme conditions (restricted mounting space in motor air gap, high temperatures during geothermal drilling).DFG/CRC/653German Federal Ministry of Education and Researc
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al., Dinwiddie et al, Srivastava et al. and Hori et al.). In this report, we describe six unrelated patients with newly diagnosed heterozygous de novo loss-of-function variants in ASXL3 and concordant clinical features: severe muscular hypotonia with feeding difficulties in infancy, significant motor delay, profound speech impairment, intellectual disability and a characteristic craniofacial phenotype (long face, arched eyebrows with mild synophrys, downslanting palpebral fissures, prominent columella, small alae nasi, high, narrow palate and relatively little facial expression). The majority of key features characteristic for Bohring-Opitz syndrome were absent in our patients (eg, the typical posture of arms, intrauterine growth retardation, microcephaly, trigonocephaly, typical facial gestalt with nevus flammeus of the forehead and exophthalmos). Therefore we emphasize that BRPS syndrome, caused by ASXL3 loss-of-function variants, is a clinically distinct intellectual disability syndrome with a recognizable phenotype distinguishable from that of Bohring-Opitz syndrome