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Article

Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.

European journal of human genetics : EJHG - 1 May 2014

Bohlega Saeed, Al-Ajlan Huda, Al-Saif Amr

Abstract excerpt

Fibulin-1 is an extracellular matrix protein that has an important role in the structure of elastic fibers and basement membranes of various tissues. Using homozygosity mapping and exome sequencing, we discovered a missense mutation, p.(Cys397Phe), in fibulin-1 in three patients from a consanguineous family presented with a novel syndrome of syndactyly, undescended testes, delayed motor milestones, mental...

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Identifiers

PMID: 24084572
DOI: 10.1038/ejhg.2013.210
PMCID: PMC3992572

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