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Nail–patella syndrome is inherited via autosomal dominancy linked to aberrancy on human chromosome 9's q arm (the longer arm), 9q34. This autosomal dominancy means that only a single copy, instead of both, is sufficient for the disorder to be expressed in the offspring, meaning the chance of getting the disorder from an affected heterozygous ...
Other names are primary hypertrophic osteoarthropathy or Touraine-Solente-Golé syndrome. [2] It is mainly characterized by pachyderma (thickening of the skin), periostosis (excessive bone formation) and finger clubbing (swelling of tissue with loss of normal angle between nail and nail bed).
16917 Ensembl ENSG00000136944 ENSMUSG00000038765 UniProt O60663 O88609 RefSeq (mRNA) NM_002316 NM_001174146 NM_001174147 NM_010725 RefSeq (protein) NP_001167617 NP_001167618 NP_002307 NP_034855 Location (UCSC) Chr 9: 126.61 – 126.7 Mb Chr 2: 33.45 – 33.53 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein ...
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This finding was important as they were the first to note that it was a benign disorder that is separate from the more severe nail-patella syndrome. [35] Other common names for ischiopatellar syndrome are small patella syndrome (SPS), since the patellae are often small or absent in patients who have this syndrome, and coxo-podo-patellaire syndrome.
Onychoatrophy, also known as nail atrophy, [1] is a faulty underdevelopment of the nail that may be congenital or acquired, in which the nail is thinned and smaller. [ 2 ] : 784 References
Seed oils, including peanut oil and sunflower oil, have been in the news a lot recently. Dietitians explain if seed oils are healthy, and health risks of them.
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