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Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome

The Richieri‐Costa‐Pereira syndrome is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre/postaxial anomalies and clubfoot. Of 15 families reported with this disorder 14 are from Brazil suggesting a founder effect. We studied 15 families using ide...

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Published in:	American journal of medical genetics 2003-09, Vol.122A (1), p.56-58
Main Authors:	Ferreira de Lima, R.L.L., Moretti-Ferreira, D., Richieri-Costa, A., Murray, J.C.
Format:	Article
Language:	English
Subjects:	Biological and medical sciences Body Height - genetics Bone and Bones - abnormalities Brazil Chromosome Mapping cleft mandible General aspects. Genetic counseling Genetic Markers Humans Mandible - abnormalities Marshfield markers Medical genetics Medical sciences Pierre Robin Syndrome - genetics Richieri-Costa-Pereira syndrome
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container_title	American journal of medical genetics
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creator	Ferreira de Lima, R.L.L. Moretti-Ferreira, D. Richieri-Costa, A. Murray, J.C.
description	The Richieri‐Costa‐Pereira syndrome is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre/postaxial anomalies and clubfoot. Of 15 families reported with this disorder 14 are from Brazil suggesting a founder effect. We studied 15 families using identity‐by‐descent as a hypothesis to attempt gene localization We have examined through linkage analysis 497 polymorphic‐markers and also performed direct sequencing of exons for 10 candidate genes selected on the basis of their expression in the developing mandible and limb. No evidence for allele sharing at any locus tested or mutations in candidate genes was found. Additional higher resolution mapping, new families and other candidate genes might improve future chances of gene identification. © 2003 Wiley‐Liss, Inc.
doi_str_mv	10.1002/ajmg.a.20270
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subjects	Biological and medical sciences Body Height - genetics Bone and Bones - abnormalities Brazil Chromosome Mapping cleft mandible General aspects. Genetic counseling Genetic Markers Humans Mandible - abnormalities Marshfield markers Medical genetics Medical sciences Pierre Robin Syndrome - genetics Richieri-Costa-Pereira syndrome
title	Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome
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