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Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
Split hand/split foot malformation (SHFM) is a heterogeneous limb developmental disorder, characterized by missing digits and fusion of remaining digits. An autosomal dominant form of this disorderExpand
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A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.
Ectrodactyly (split hand/split foot malformation, SHSF) is a human limb malformation characterized by absent central digital rays, deep median cleft, and syndactyly of remaining digits. The disorderExpand
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Current priorities for public health practice in addressing the role of human genomics in improving population health.
In spite of accelerating human genome discoveries in a wide variety of diseases of public health significance, the promise of personalized health care and disease prevention based on genomics hasExpand
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False Identification of Coccidioides immitis: Do Molecular Methods Always Get It Right?
ABSTRACT rRNA sequence analysis of a partial region of the 18S and 5.8S-internal transcribed spacer 2 (ITS2) region of Chrysosporium keratinophilum highlights its potential molecularExpand
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The phenotype of multiple congenital anomalies‐hypotonia‐seizures syndrome 1: Report and review
The Multiple Congenital Anomalies‐Hypotonia‐Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2‐year‐old Mexican American boy with the syndrome and additionalExpand
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Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.
Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF andExpand
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Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2‐q22.1
A deletion of 7q21.2‐q22.1 has been found in a patient with split foot and developmental retardation. Molecular analysis using polymerase chain reaction (PCR) showed deletion of three microsatelliteExpand
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Non-Mendelian transmission in a human developmental disorder: split hand/split foot.
The study of Mendelian disorders that do not meet some Mendelian expectations has led to an increased understanding of such previously obscure genetic phenomena as anticipation. Split hand/split footExpand
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A contiguous gene deletion syndrome at 7q21‐q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly
Ectrodactyly is a genetically heterogeneous human limb developmental malformation with an autosomal locus at 7q21 designated SHFDI.We report a patient with ectrodactyly and a small interstitialExpand
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Retrotransposition of a mouse L1 element.
Long interspersed elements (LINEs) of the L1 family represent a major class of mammalian repetitive DNA and are present at copy numbers of between 10(4) and 10(5) elements per genome. StructuralExpand
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