Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
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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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Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features ...
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ژورنال
عنوان ژورنال: Nature
سال: 2003
ISSN: 0028-0836,1476-4687
DOI: 10.1038/nature01629