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Document type:
Journal Article; Research Support, Non-U.S. Gov't 
Author(s):
Klopocki, E; Lohan, S; Doelken, SC; Stricker, S; Ockeloen, CW; Soares Thiele de Aguiar, R; Lezirovitz, K; Mingroni Netto, RC; Jamsheer, A; Shah, H; Kurth, I; Habenicht, R; Warman, M; Devriendt, K; Kordass, U; Hempel, M; Rajab, A; Mäkitie, O; Naveed, M; Radhakrishna, U; Antonarakis, SE; Horn, D; Mundlos, S 
Title:
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. 
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...    »
 
Journal title abbreviation:
J Med Genet 
Year:
2012 
Journal volume:
49 
Journal issue:
Pages contribution:
119-25 
Language:
eng 
Print-ISSN:
0022-2593 
TUM Institution:
Institut für Humangenetik