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Title

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Authors
Klopocki, Eva
Lohan, Silke
Doelken, Sandra C
Stricker, Sigmar
Ockeloen, Charlotte W
Soares Thiele de Aguiar, Renata
Lezirovitz, Karina
Mingroni Netto, Regina Celia
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Published in Journal of Medical Genetics. 2012, vol. 49, no. 2, p. 119-25
Abstract Split-hand/foot malformation (SHFM)-also known as ectrodactyly-is a congenital disorder characterised by severe malformations of the distal limbs affecting the central rays of hands and/or feet. A distinct entity termed SHFLD presents with SHFM and long bone deficiency. Mouse models suggest that a defect of the central apical ectodermal ridge leads to the phenotype. Although six different loci/mutations (SHFM1-6) have been associated with SHFM, the underlying cause in a large number of cases is still unresolved.
Keywords AnimalsBasic Helix-Loop-Helix Transcription Factors/geneticsEctromelia/geneticsFemaleFingers/abnormalitiesGene DuplicationGene Knockdown TechniquesGenetic Association StudiesGenotypeHand Deformities, Congenital/geneticsHumansInheritance PatternsLimb Deformities, Congenital/geneticsMalePedigreePhenotypeTibia/abnormalitiesZebrafish/embryology/genetics
Identifiers
PMID: 22147889
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Structures
Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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KLOPOCKI, Eva et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. In: Journal of Medical Genetics, 2012, vol. 49, n° 2, p. 119-25. https://archive-ouverte.unige.ch/unige:34655

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Deposited on : 2014-03-07

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