Primary microcephaly
National Institutes of Health
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Primary microcephaly (PM) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes and loci…
BACKGROUND Primary microcephaly (MCPH) is a rare developmental defect characterized by impaired cognitive functions, retarded…
Autosomal recessive primary microcephaly is a rare genetic disorder that is characterized by reduced head circumference and a…
Primary microcephaly is a genetically heterogeneous neurodevelopmental disorder characterized by a severe reduction in brain…
Summary The primary cilium is a microtubule-based structure protruded from the basal body analogous to the centriole. CPAP…
Microcephaly, a commonly documented finding in paediatric neurological practice, confers little diagnostic specificity. Defined…
Aim: To describe the population‐based epidemiological characteristics and clinical features of primary microcephaly in Hungary.
BACKGROUND
The possible association between maternal appendicitis/appendectomy during pregnancy and congenital abnormalities in…
There are no chromosomal or biochemical abnormalities that can be used for the prenatal diagnosis of primary microcephaly…