Article
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
American journal of human genetics - 2 Nov 2017
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
Abstract excerpt
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 appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and...
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