Lane J

ORCID: 0000-0002-2518-1050 · 2 papers in corpus
2020
Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.
The Journal of clinical endocrinology and metabolism ·doi:10.1210/clinem/dgaa160

ContextGermline loss-of-function CDKN1B gene variants cause the autosomal dominant syndrome of multiple endocrine neoplasia type 4 (MEN4). Even though pituitary neuroendocrine tumors are a well-known component of the syndrome, only 2 cases …

2018
Impacts of impaired face perception on social interactions and quality of life in age-related macular degeneration: A qualitative study and new community resources.
PloS one ·doi:10.1371/journal.pone.0209218

AimsPrevious studies and community information about everyday difficulties in age-related macular degeneration (AMD) have focussed on domains such as reading and driving. Here, we provide the first in-depth examination of how impaired face …