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注意:仅列出部分参考文献,下载原文获取全部文献信息。A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
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JOURNAL OF MEDICAL GENETICS (2008)
Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
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A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family
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A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud
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Sonic hedgehog function in chondrichthyan fins and the evolution of appendage patterning
Randall D. Dahn et al.
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Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Pbx1/Pbx2 requirement for distal limb patterning is mediated by the hierarchical control of Hox gene spatial distribution and Shh expression
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Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb
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Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh)
T Sagai et al.
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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
LA Lettice et al.
HUMAN MOLECULAR GENETICS (2003)
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E
D Johnson et al.
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Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Manifestation of the limb prepattern: Limb development in the absence of sonic hedgehog function
C Chiang et al.
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