Greenberg dysplasia

(redirected from Lamin B receptor)
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Greenberg dysplasia

A rare autosomal recessive chondrodystrophy (OMIM:215140) characterised by early in utero lethality. Affected foetuses present with hydrops, short-limbed dwarfism and a marked disorganisation of chondro-osseous calcification; they may present with polydactyly and other nonskeletal malformations.

Molecular pathology
Caused by defects in LBR, which encodes lamin B receptor (thought to mediate interaction between chromatin and lamin B).
References in periodicals archive ?
Singapore, Feb 8, 2013 - (ACN Newswire) - Scientists from Singapore and Germany have identified that the proteins lamin A (Lmna) and lamin B receptor (Lbr) are essential for holding silent genes in their correct position at the edge of the nucleus, in the form of heterochromatin(1).
The scientists showed that the two proteins lamin A and lamin B receptor are important to the organisation of chromatin in the nucleus.