De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearan...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmüller, Janine, Netzer, Christian, Thiele, Holger, Nürnberg, Peter, Yigit, Gökhan, Jäger, Marten, Hecht, Jochen, Krüger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Björn, Kornak, Uwe
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5673623/
https://ncbi.nlm.nih.gov/pubmed/29100093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.09.016
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