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About 6 results

ALLMedicine™ Beare-stevenson Cutis Gyrata Syndrome Center

Research & Reviews  3 results

p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366414
The Journal of Clinical Investigation; Wang Y, Zhou X et. al.

May 15th, 2012 - Beare-Stevenson cutis gyrata syndrome (BSS) is a human genetic disorder characterized by skin and skull abnormalities. BSS is caused by mutations in the FGF receptor 2 (FGFR2), but the molecular mechanisms that induce skin and skull abnormalities ...

Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some ...
https://doi.org/10.1097/SCS.0b013e318193d48d
The Journal of Craniofacial Surgery; Cohen MM

Sep 30th, 2009 - Perspectives on craniosynostosis are discussed under the following headings: sutural biology (anatomic and genetic categories of synostosis; sutures, suture systems, and types of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer...

Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in th...
https://doi.org/10.3892/mmr_00000024
Molecular Medicine Reports; Fonseca RF, Costa-Lima MA et. al.

Aug 31st, 2008 - Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies and prominent umbilical stump. There are few reports on the syndrome, and molecular analys...

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Clinicaltrials.gov  3 results

p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366414
The Journal of Clinical Investigation; Wang Y, Zhou X et. al.

May 15th, 2012 - Beare-Stevenson cutis gyrata syndrome (BSS) is a human genetic disorder characterized by skin and skull abnormalities. BSS is caused by mutations in the FGF receptor 2 (FGFR2), but the molecular mechanisms that induce skin and skull abnormalities ...

Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some ...
https://doi.org/10.1097/SCS.0b013e318193d48d
The Journal of Craniofacial Surgery; Cohen MM

Sep 30th, 2009 - Perspectives on craniosynostosis are discussed under the following headings: sutural biology (anatomic and genetic categories of synostosis; sutures, suture systems, and types of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer...

Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in th...
https://doi.org/10.3892/mmr_00000024
Molecular Medicine Reports; Fonseca RF, Costa-Lima MA et. al.

Aug 31st, 2008 - Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies and prominent umbilical stump. There are few reports on the syndrome, and molecular analys...

see more →