ArticleAmerican journal of human genetics1998
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
10 citing papers in PubMed, 67 citations in OpenAlex.
- A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in theMolecular syndromology · 2024Article
- 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype.Clinical case reports · 2018Article
- Genetic basis of dental agenesis--molecular genetics patterning clinical dentistry.Medicina oral, patologia oral y cirugia bucal · 2014Review
- Association of generalized aggressive periodontitis and ectrodactyly-ectodermal dysplasia-cleft syndrome.Indian journal of human genetics · 2012Article
- Predicting disease genes using protein-protein interactions.Journal of medical genetics · 2006Article
- The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development.Genes & development · 2002Article
- p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.American journal of human genetics · 2001Article
- Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.American journal of human genetics · 1999Article
- A morpho-etiological description of congenital limb anomalies.Annals of Saudi medicineArticle
- Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).Journal of oral biology and craniofacial researchArticle
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
Congenital limb malformations rank behind only congenital heart disease as the most common birth defects observed in infants. Finding genes that cause defects in human limb patterning should be straightforward but has been limited, in part, by the bewildering spectrum of phenotypes, which are difficult to separate into etiologically distinct disorders. One approach to the identification of relevant genes is to take advantage of unique extended kindreds in which a defect in limb patterning is segregating. Recently, a large Dutch family with ectrodactyly, ectodermal dysplasia, cleft palate, and urogenital defects (EEC) was described by Maas et al. We have studied this kindred and localized a gene causing EEC to a locus on chromosome 19, in a region defined by D19S894 and D19S416. A second extended kindred with EEC does not map to this locus, indicating that EEC is a genetically heterogeneous disorder. Growth and patterning of the limbs, teeth, hair, and genitourinary system are mediated in part by epithelial-mesenchyme inductive interactions. The identification of both the gene causing EEC and its mutation may further elucidate the general signals mediating inductive mechanisms.
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Registered trials
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