A novel patient with Cooks syndrome supports splitting from “classic” brachydactyly type B
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference21 articles.
1. One gene, two phenotypes:ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B
2. ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome
3. 1955. On brachydactyly and symphalangism. In: The treasury of human inheritance, Vol.5, 1-31. Cambridge: Cambridge University Press.
4. A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges
5. Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Cooks Syndrome: A Case Report and Brief Review;Pediatric Dermatology;2012-02-13
2. Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome;American Journal of Medical Genetics Part A;2011-08-16
3. Brachydactyly, anonychia and a deformed nasal tip in a 16-year-old girl: A case report;Journal of Plastic, Reconstructive & Aesthetic Surgery;2011-06
4. Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3–13.1;European Journal of Human Genetics;2010-02-10
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