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ALLMedicine™ Baller-gerold Syndrome Center

Research & Reviews  5 results

Baller-Gerold Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/bgs/

Apr 19th, 2018 - Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combin...

The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma fo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393104
PLoS Genetics; Ng AJ, Walia MK et. al.

Apr 11th, 2015 - RECQL4 mutations are associated with Rothmund Thomson Syndrome (RTS), RAPADILINO Syndrome and Baller-Gerold Syndrome. These patients display a range of benign skeletal abnormalities such as low bone mass. In addition, RTS patients have a highly in...

Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome.
https://doi.org/10.1002/ajmg.a.36004
American Journal of Medical Genetics. Part A; Rojnueangnit K, Robin NH

Jul 3rd, 2013 - A newborn with bilateral coronal craniosynostosis, hypoplastic thumbs, imperforate anus, and prenatal growth restriction was evaluated and given the clinical diagnosis of Baller-Gerold syndrome (BGS). While confirmatory testing of RECQL4 was pendi...

A patient with Baller-Gerold syndrome and midline NK/T lymphoma.
https://doi.org/10.1002/ajmg.a.32736
American Journal of Medical Genetics. Part A; Debeljak M, Zver A et. al.

Mar 18th, 2009 - Three autosomal recessive disorders are associated with mutations in the RECQL4 gene: Rothmund-Thomson syndrome (RTS), Baller-Gerold syndrome (BGS), and RAPADILINO syndrome. BGS is characterized by two major clinical abnormalities: craniosynostosi...

baller-gerold syndrome (Concept Id: C0265308) - MedGen - NCBI
https://www.ncbi.nlm.nih.gov/books/?Cmd=Link&Db=medgen&DbFrom=books&IdsFromResult=1495436&LinkName=books_medgen

Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combin...

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