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Titel:

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

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
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
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...     »
Zeitschriftentitel:
J Med Genet
Jahr:
2012
Band / Volume:
49
Heft / Issue:
2
Seitenangaben Beitrag:
119-25
Sprache:
eng
Volltext / DOI:
doi:10.1136/jmedgenet-2011-100409
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/22147889
Print-ISSN:
0022-2593
TUM Einrichtung:
Institut für Humangenetik
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