research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
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research The role of R-spondins and their receptors in bone metabolism
R-spondins and their receptors help increase bone growth and may be used to treat bone loss diseases.
research Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.
Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Calcitriol-Resistant Rickets With Alopecia
Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
research Episodic Neuropathic-Like Musculoskeletal Pain Associated With Ritlecitinib Therapy in Alopecia Universalis: A Case Report
Ritlecitinib may cause severe musculoskeletal pain in some alopecia universalis patients.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Rituximab for Bone Lymphoma
Rituximab effectively treated a woman's bone lymphoma that was resistant to other treatments.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation
Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Diffuse idiopathic skeletal hyperostosis in a 33-year-old woman with PCOS and metabolic syndrome: a rare scenario
A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research POS1510-HPR NUTRITIONAL STATUS AND DIETARY INTAKE ASSESSMENT IN PREGNANT WOMEN WITH RHEUMATIC DISEASES
Pregnant women with rheumatic diseases often have poor nutrition, needing more folic acid, calcium, and iron, while consuming too much selenium.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Histological analysis of the impact of isotretinoin in the endochondral ossification in Wistar rats
Isotretinoin delays bone development in young rats.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D
The child's body didn't respond well to vitamin D, causing hair loss and rickets.
research ‘Disappearing Foot Disease’: An Unusual Presentation of Primary Lymphoma of Bone
An elderly woman's swollen, painful foot was found to be caused by a rare type of bone lymphoma, which improved with radiation treatment.
research 81 Juvenile RHUPUS syndrome: a case reports
RHUPUS should be considered in children with deforming arthritis.
research Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
research Alopecia in vitamin D-dependent rickets type II responding to 1α-hydroxycholecalciferol
A boy's hair loss and bone issues improved with specific vitamin D treatment and calcium.
research Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
research Radiographic Findings of Shoulder Involvement in Ankylosing Spondylitis
The patient with Ankylosing Spondylitis had shoulder joint damage and bone changes.