| Literature DB >> 23583796 |
Abstract
Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) II has recently been defined as a PCNT gene defect. Historically, it has been a disorder of interest because of the severe intrauterine growth restriction and postnatal short stature. The very shortest/smallest mature human being undoubtedly had this disorder. Maria Zarate lived between 1864 and 1890 and traveled in sideshows to England and all over North America. Her exceeding short stature was well documented in photographs and by a group of physicians in England. She was Mexican and also had an affected brother. A museum, Museo Casa Grande, about her still exists in Cempoala, Mexico.Entities:
Keywords: (abnormal spindle) homolog, microcephaly associated (Drosophila); ASPM asp; ATR; CDK5 regulatory subunit associated protein 2; CDK5RAP2; CENP; CNS; Fig; Figure; Historical; IUGR; Intrauterine growth restriction; LPA; Little People of America; Lucia Zarate; MCPH2; MOPD; MOPD II; Osteodysplasia; PCNT; Pericentrin; Primordial dwarfism; ataxia telangiectasia and Rad3 related; centimeter(s); central nervous system; centromere protein; cm; intrauterine growth restriction; microcephalic osteodysplastic primordial dwarfism; microcephaly 2, primary autosomal recessive with or without cortical malformations; pericentrin
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Year: 2013 PMID： 23583796 DOI： 10.1016/j.gene.2013.03.081
Source DB: PubMed Journal: Gene ISSN： 0378-1119 Impact factor: 3.688