Richieri-Costa and Pereira form of acrofacial dysostosis: First description of an adult with mesomelic shortness of the lower limbs

Author:

Graziadio Carla,Rosa Rafael F.M.,Zen Paulo R.G.,Flores José A.M.,Paskulin Giorgio A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference8 articles.

1. Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome;Ferreira de Lima;Am J Med Genet Part A,2003

2. New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis;Golbert;Clin Dysmorphol,2007

3. Online Mendelian Inheritance in Man, OMIM (TM). 2007. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.

4. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: Another affected Brazilian patient born to consanguineous parents;Richieri-Costa;Am J Med Genet,1997

5. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: A new autosomal recessive syndrome;Richieri-Costa;Am J Med Genet,1992

Cited by 6 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. Craniofacial Features in Richieri-Costa-Pereira Syndrome;The Cleft Palate-Craniofacial Journal;2021-01-28

2. Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum;Clinical Genetics;2018-02-20

3. Richieri-costa and Pereira syndrome: Severe phenotype;American Journal of Medical Genetics Part A;2013-06-21

4. Dental anomalies in Richieri-Costa-Pereira syndrome;Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology;2012-07

5. The Richieri-Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature;American Journal of Medical Genetics Part A;2011-04-11

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