A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1432-1203
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
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A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation ; volume:122 ; number:2 ; day:14 ; month:6 ; year:2007 ; pages:191-199 ; date:9.2007
Human genetics; 122, Heft 2 (14.6.2007), 191-199, 9.2007
- Urheber
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Babbs, Christian
Heller, Raoul
Everman, David B.
Crocker, Mark
Twigg, Stephen R. F.
Schwartz, Charles E.
Giele, Henk
Wilkie, Andrew O. M.
- Beteiligte Personen und Organisationen
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SpringerLink (Online service)
- DOI
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10.1007/s00439-007-0390-7
- URN
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urn:nbn:de:101:1-2021082419564818799071
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:50 MESZ
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Beteiligte
- Babbs, Christian
- Heller, Raoul
- Everman, David B.
- Crocker, Mark
- Twigg, Stephen R. F.
- Schwartz, Charles E.
- Giele, Henk
- Wilkie, Andrew O. M.
- SpringerLink (Online service)
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A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation
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Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study
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