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Can I read Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21 on EtoBox?
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21 by D Tackels-Horne; A Toburen; E Sangiorgi; F Gurrieri; X De Mollerat; R Fischetto; F Causio; K Clarkson; Re Stevenson; Ce Schwartz is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21 about?
Developmental anomalies of the appendicular skeleton are among the most common and easily ascertained birth defects. Split hand/split foot malformations, distinctive in having deficiency of the central rays, occur as isolated anomalies and as one component of multisystem syndromes. The clinical and molecular characterization of a new syndrome, found in two unrelated families, consisting of split foot with hearing loss, is presented here. As in other split hand/split foot conditions, variable expression and reduced penetrance is notable. In the larger family, variably expressed split foot malformations were found in 6 of 11 gene carriers, and mild‐to‐moderate sensorineural hearing loss in 4. Split hand and cleft lip/palate in one individual and tibial deficiency in another suggest that these malformations are uncommon components of the syndrome. Ectodermal abnormalities did not occur. In the second family, variable split foot was observed in 3 of 4 gene carriers, and sensorineural deafness was present in 3. Split hand was only seen in a gene carrier who also had split foot and deafness. One gene carrier only had deafness. The gene for split hand/split foot with sensorineural hearin
Who reads Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- D Tackels-Horne; A Toburen; E Sangiorgi; F Gurrieri; X De Mollerat; R Fischetto; F Causio; K Clarkson; Re Stevenson; Ce Schwartz
- Publisher
- John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0009-9163)
- Published
- 2001
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)