and breast agenesis in females
The canonical role of all proteins associated with MGORS are involved in different stages of DNA replication
Meier-Gorlin syndrome (MGORS) is a rare form of microcephalic primordial dwarfism (MPD) with less than 100 cases reported in the literature
MPD is an umbrella term for a group of rare disorders defined by global growth restriction including micro- cephaly
Generally, these disorders are inherited in an autosomal recessive manner
Associated genes encode proteins involved in processes required for timely cell cycle progression such as cell cycle checkpoint, centrosome duplication and coordination, DNA replication, and DNA repair
reduced cellular proliferation
The molecular pathophysiology suggests reduced cellular proliferation (or increased apoptosis) during development ultimately underlies the restricted growth .
with the exception of mammary hypoplasia which is completely penetrant in post-pubescent females .
disruption to DNA replication
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