Results 251 to 260 of about 84,906 (335)

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa   +3 more
wiley   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri   +3 more
wiley   +1 more source

Pressure‐Driven Reactivity in Dense Methane‐Nitrogen Mixtures

open access: yesAngewandte Chemie, EarlyView.
CH4 and N2 are abundant molecules in our solar system and are the primary constituents of Titan's atmosphere. Under extreme pressures and temperatures within a diamond anvil cell, CH4 and N2 are demonstrated to react to form a range of compounds, dependent on the conditions and initial concentrations.
Hannah A. Shuttleworth   +13 more
wiley   +2 more sources

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