De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
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چکیده
منابع مشابه
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
Möbius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this syndrome has been enigmatic since the initial descriptions by von Graefe in 1880 and by Möbius in 1888, and it has been debated for decades whether MBS has a genetic or a non-genetic aetiology. Here, we report de novo mutations a...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2017
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2017.09.016