2020
DOI: 10.1111/pde.14337
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A novel mutation in LMX1B gene in a newborn with nail‐patella syndrome: Clinical and dermoscopic findings

Abstract: We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails. Sequence analysis of LMX1B gene identified a novel heterozygous de novo mutation within exon 2, pathogenetic for a nail-patella syndrome. Pediatric Dermatology anterior segment of the eye, dopaminergic neurons in the central nervous system, and renal podocytes in the glomerular basement membrane. Hetero… Show more

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“…NPS is also known as Fong disease as well as hereditary osteo-onychodysplasia, or hereditary onchyo-osteo-dysplasia (HOOD) syndrome [ 2 ]. The condition stems from mutations in the LMX1B gene on chromosome 9 [ 3 , 4 ]. There have been more than 140 described mutations including missense, frame shifting, deletion, and splicing [ 5 ].…”
Section: Introductionmentioning
confidence: 99%
“…NPS is also known as Fong disease as well as hereditary osteo-onychodysplasia, or hereditary onchyo-osteo-dysplasia (HOOD) syndrome [ 2 ]. The condition stems from mutations in the LMX1B gene on chromosome 9 [ 3 , 4 ]. There have been more than 140 described mutations including missense, frame shifting, deletion, and splicing [ 5 ].…”
Section: Introductionmentioning
confidence: 99%
“…Most of the literature regarding the treatment of NPS-related patellar problems, concerns pediatric population, 5 and there is no defined treatment algorithm for adult patients. 6 …”
Section: Introductionmentioning
confidence: 99%