منابع مشابه
Microcephaly
interesting questions related to a hot topic will eventually be revealed by somebody. Therefore, I try to study what other people do not. One thing I try to keep in mind is whether my questions are of general interest. My major interest lies in the underlying mechanism of seasonality. Because research on this topic requires a long time, few people want to work on this topic. I used quail as a m...
متن کاملMicrocephaly
Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. Congenital microcephaly is present at birth, whereas postnatal microcephaly occurs later in life. Genetic abnormalities, syndromes, metabolic disorders, teratogens, infections, prenatal, perinatal, and postnatal injuries can cause both congenital and postnatal microcephaly. Evalu...
متن کاملA homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
We performed exome analysis in two affected siblings with severe intellectual disability (ID), microcephaly and spasticity from an Ashkenazi Jewish consanguineous family. We identified only one rare variant, a missense in SLC1A4 (c. 766G>A [p. E256K]), that is homozygous in both siblings but not in any of their 11 unaffected siblings or their parents (Logarithm of odds, LOD score: 2.6). This va...
متن کاملOro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population.
We describe four patients, two pairs of siblings, with a somewhat unique oro-facial-digital syndrome. The siblings come from the Navajo population which has undergone several genetic "bottlenecks." Thus, as would be anticipated, this syndrome seems to show autosomal recessive inheritance. The combination of the presence of retinal colobomata and the paucity of digital findings in these patients...
متن کاملIdentification of severe acute respiratory syndrome in Canada.
BACKGROUND Severe acute respiratory syndrome (SARS) is a condition of unknown cause that has recently been recognized in patients in Asia, North America, and Europe. This report summarizes the initial epidemiologic findings, clinical description, and diagnostic findings that followed the identification of SARS in Canada. METHODS SARS was first identified in Canada in early March 2003. We coll...
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ژورنال
عنوان ژورنال: Paediatrics & Child Health
سال: 2018
ISSN: 1205-7088,1918-1485
DOI: 10.1093/pch/pxy054.032