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Quoted phrase not found in phrase index: "Intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature"
Page 1
Genetic disorders associated with postnatal microcephaly.
Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16.
Am J Med Genet C Semin Med Genet. 2014.
PMID: 24839169
Review.
Many postnatal microcephaly syndromes are caused by mutations in genes important in the regulation of gene expression in the developing forebrain and hindbrain, although important synaptic structural genes also play a role. This is an emerging group of disorders with a fas …
Many postnatal microcephaly syndromes are caused by mutations in genes important in the regulation of gene expression in the developi …
Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation.
Mégarbané A.
Mégarbané A.
Am J Med Genet A. 2003 Feb 1;116A(4):381-4. doi: 10.1002/ajmg.a.10023.
Am J Med Genet A. 2003.
PMID: 12522796
We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent ear lobes, high-arched palates, abnormal EEG, and severe mental retardation. ...
We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent …
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