Open AccessJournal Article
Type II syndactyly.
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This article is published in American Journal of Human Genetics.The article was published on 1968-07-01 and is currently open access. It has received 19 citations till now. The article focuses on the topics: Syndactyly & Dermatoglyphics.read more
Citations
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Journal ArticleDOI
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
FR Goodman,Stefan Mundlos,Y. Muragaki,Dian Donnai,Maria-Luisa Giovannucci-Uzielli,Elisabetta Lapi,Frank Majewski,Julie McGaughran,C McKeown,Willie Reardon,Joseph Upton,Robin M. Winter,Bjorn R. Olsen,Peter J. Scambler +13 more
TL;DR: The remarkable correlation between phenotype and expansion size suggests that expansion of the tract leads to a specific gain of function in the mutant HOXD13 protein, and has interesting implications for the role of polyalanine tracts in the control of transcription.
Journal ArticleDOI
Deletions in HOXD13 Segregate with an Identical, Novel Foot Malformation in Two Unrelated Families
FR Goodman,Maria-Luisa Giovannucci-Uzielli,Christine Hall,William Reardon,Robin M. Winter,Peter J. Scambler +5 more
TL;DR: A novel type of mutation is reported in HOXD13, associated in some cases with features of classic SPD and in all cases with a novel foot phenotype, which has interesting implications for the role of HOxD13 in human autopod development.
Book
Genetic Diseases of the Skin
TL;DR: The author reveals that the most common types of genetic disorders are autosomal dominant, with at least two types of recessive and one type of “spatially aggregating” conditions.
Journal ArticleDOI
Synpolydactyly: clinical and molecular advances.
TL;DR: It is concluded that typical SPD features can be delineated from minor clinical variants and a lumping and splitting scheme for SPD phenotypic variants could be useful for the understanding of this interesting malformation.
Journal ArticleDOI
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
TL;DR: It is noted that metacarpal and metatarsal involvement and middle phalangeal hypoplasia of the feet are the consistent features of SPD and should be considered as characteristic of this phenotype.
References
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Journal ArticleDOI
The distal triradius t on the hands of parents and sibs of mongol imbeciles.
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Probable linkage between a congenital cataract locus and the duffy blood group locus.
J. H. Renwick,Sylvia D. Lawler +1 more
TL;DR: The large family of Nettleship (1909), which manifests one type of congenital cataract, has been studied in a search for linkage, and there is a strong indication of close linkage with the Duffy locus.
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The use of dermal configurations in the diagnosis of mongolism
TL;DR: A new method is outlined by which a purely objective diagnosis of mongolism can be made, based on the significant differences in the frequencies of dermal configurations for mONGoloid imbeciles compared with a control series.
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The Third Interdigital Patterns on the Palms of the General British Population, Mongoloid and Non-Mongoloid Mental Defectives
TL;DR: No significant differences were found in the control population and non-mongoloid defectives with regard to the morphology, asymmetries and frequency of the character in question.