A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
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Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina).Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndromeGroup 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability.The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approachesStructural basis for sequence specific DNA binding and protein dimerization of HOXA13Limb malformations and the human HOX genesSelection on different genes with equivalent functions: the convergence story told by Hox genes along the evolution of aquatic mammalian lineagesCompound heterozygosity of a frameshift mutation in the coding region and a single base substitution in the promoter of the ACTH receptor gene in a family with isolated glucocorticoid deficiency.Candidate gene analysis in a case of congenital absence of the endometrium.Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth diseaseIsolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.Survival of Hoxa13 homozygous mutants reveals a novel role in digit patterning and appendicular skeletal developmentMolecular evolution of HoxA13 and the multiple origins of limbless morphologies in amphibians and reptiles.HOX genes: Major actors in resistance to selective endocrine response modifiers.Breakpoints around the HOXD cluster result in various limb malformations.Molecular basis for skeletal variation: insights from developmental genetic studies in mice.Folate modulates Hox gene-controlled skeletal phenotypes.Backbone chemical shift assignments of mouse HOXA13 DNA binding domain bound to duplex DNA.Chemical shift assignments of mouse HOXD13 DNA binding domain bound to duplex DNA.Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.(1)H, (15)N, and (13)C chemical shift assignments of mouse HOXA13 DNA binding domain.Spatio-temporal expression of HOX genes in human hindgut development.Hand-foot-genital syndrome - analysis of two cases.
P2860
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P2860
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
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2002 nî lūn-bûn
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2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2002 թվականի մայիսին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年论文
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A HOXA13 allele with a missens ...... underlies Guttmacher syndrome
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A HOXA13 allele with a missens ...... underlies Guttmacher syndrome
@en
A HOXA13 allele with a missens ...... underlies Guttmacher syndrome
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A HOXA13 allele with a missens ...... underlies Guttmacher syndrome
@ast
A HOXA13 allele with a missens ...... underlies Guttmacher syndrome
@en
A HOXA13 allele with a missens ...... underlies Guttmacher syndrome
@nl
prefLabel
A HOXA13 allele with a missens ...... underlies Guttmacher syndrome
@ast
A HOXA13 allele with a missens ...... underlies Guttmacher syndrome
@en
A HOXA13 allele with a missens ...... underlies Guttmacher syndrome
@nl
P2093
P3181
P356
P1433
P1476
A HOXA13 allele with a missens ...... underlies Guttmacher syndrome
@en
P2093
Alan E Guttmacher
Chiara Bacchelli
Douglas P Mortlock
Frances R Goodman
Jeffrey W Innis
Praveen Sateesh
Thomas M Williams
Wendy McKinnon
P3181
P356
10.1002/HUMU.9036
P407
P577
2002-05-01T00:00:00Z