Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)
Definition:
References:
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[1]. Ghada M H Abdel-Salam, et al. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am J Med Genet A. 2011 Nov;155A(11):2885-96. [Content Brief]
[2]. Patrick Edery, et al. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science. 2011 Apr 8;332(6026):240-3. [Content Brief]
[3]. Piranit N Kantaputra, et al. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. Am J Med Genet A. 2004 Oct 1;130A(2):181-90. [Content Brief]
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