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Article

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

Human molecular genetics - 15 Aug 2003

de Mollerat Xavier J, Gurrieri Fiorella, Morgan Chad T, Sangiorgi Eugenio, Everman David B, Gaspari Paola, Amiel Jeanne, Bamshad Michael J, Lyle Robert, Blouin Jean-Louis, Allanson Judith E, Le Marec Bernard, Wilson Melba, Braverman Nancy E, Radhakrishna Uppala, Delozier-Blanchet Celia, Abbott Albert, Elghouzzi Vincent, Antonarakis Stylianos, Stevenson Roger E, Munnich Arnold, Neri Giovanni, Schwartz Charles E

Abstract excerpt

Split hand-split foot malformation (SHFM) is characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits. SHFM is usually an autosomal dominant condition and at least five loci have been identified in humans. Mutation analysis of the DACTYLIN gene, suspected to be responsible for SHFM3 in chromosome 10q24, was conducted in seven SHFM patients. We screened the coding region of...

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Abnormalities, Multiple
Cell Line, Transformed
Chromosomes, Human, Pair 10
Electrophoresis, Gel, Pulsed-Field

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Duplication

Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 12913067
DOI: 10.1093/hmg/ddg212

Genes

LBX1

Provenance

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A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.PMID 12913067Read ↗

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