identified a novel NPS-causing LMX1B mutation and expanded the spectrum of mutations in the LMX1B gene. The c.712_714delTTC mutation may affect the quaternary structure of LMX1B which is essential for the specification of dorsal limb fate at both zeugopodal and autopodal levels leading to typical NPS
Authors conclude that Lmx1b plays a key role as an anti-osteogenic factor in patterning the head mesenchyme into areas with different osteogenic competence. In turn this patterning event is crucial to generating the proper organization of the bones and soft tissue joints of the calvaria.
Co-immunoprecipitation experiments show that both wild-type and Icst LMX1B are found in complexes with LIM domain binding protein 1 (LDB1) resulting in lower levels of functional LMX1B in Icst heterozygotes than null heterozygotes
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