82 citations
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April 1981 in “Clinical endocrinology” This study describes a case of vitamin D resistant rickets in a young girl due to end organ unresponsiveness, highlighting a possible new subtype of the disorder with distinct clinical features.
50 citations
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October 1986 in “European journal of pediatrics” This case study reported that absence of alopecia does not reliably predict responsiveness to vitamin D treatment in Vitamin D-dependent rickets type II, as demonstrated by a patient with normal hair growth who showed extreme resistance.
July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.
November 2022 in “Journal of the Endocrine Society” This case report suggests that genetic evaluation for glucocorticoid resistance, such as the NR3C1 gene variant, is crucial for proper diagnosis and management of patients showing atypical signs of hypercortisolism.
5 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Piezo2 channels are primarily located on sensory axon membranes in mechanosensory end organs, supporting a model where mechanical stimuli activate Aβ RA-LTMR neurons via axon protrusions.