Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
Definition:
References:
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[1]. Judith G Hall, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A. 2004 Sep 15;130A(1):55-72. [Content Brief]
[2]. M Willems, et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010 Dec;47(12):797-802. [Content Brief]
[3]. Maria Piane, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Am J Med Genet A. 2009 Nov;149A(11):2452-6. [Content Brief]