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Novel variants in nail-patella syndrome.
Hong Kong Med J
February 2025
Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.
LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.
NPJ Genom Med
February 2025
Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Nail-Patella syndrome (NPS) is a rare autosomal dominant condition due to haploinsufficiency of LMX1B, caused by loss-of-function variants affecting the coding sequence, or partial/whole deletions of the gene. In here, we describe two familial cases of NPS, carrying novel variants of the LMX1B 5'UTR region (-174C>T and -226G>A). To verify their pathogenic role, we carried out a functional characterization, both by reporter gene assays in heterologous systems and in patient's derived cells.
View Article and Find Full Text PDFThe role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes.
J Obstet Gynaecol Res
January 2025
Department of Maternal Fetal Medicine, Health Science University, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Introduction: Persistent right umbilical vein (PRUV) is an embryonic vascular abnormality. Recent studies suggested that the perinatal outcome was good and the risk of aneuploidy was low in isolated forms. Our purpose in this study was to assess the relation of PRUV with genetic abnormalities and demonstrate concomitant malformations and perinatal outcomes of these fetuses.
View Article and Find Full Text PDFEvidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study.
Sci Rep
December 2024
Department of Pain and Palliative Care, Hôpital Necker-Enfants Malades, AP-HP, 149 rue de Sèvres, Paris, France.
Nail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain. Although chronic pain in NPS is mainly due to bone and musculoskeletal symptoms, it can also result from neurological dysfunction. Conventional analgesics are often insufficient to relieve NPS-associated chronic pain.
View Article and Find Full Text PDFRadiological manifestations of nail-patella syndrome in a 56-year-old female: A case report.
Radiol Case Rep
October 2024
Department of Radiology, National Academy of Medical Sciences, Bir Hospital, Kathmandu, Nepal.
Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns and dysplasia of the elbows. We present a case of a 56-year-old female presenting with bilateral knee pain, where initial radiographic findings of hypoplastic patellae prompted further investigation, revealing characteristic skeletal anomalies consistent with NPS. This case underscores the importance of recognizing radiological clues and conducting thorough clinical evaluation to diagnose rare genetic conditions such as NPS.
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