Opitz-Kavaggia syndrome

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Opitz-Kavaggia syndrome

An X-linked recessive mental retardation syndrome (OMIM:305450) characterised by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces; accompanied by hypotonia, constipation and partial agenesis of the corpus callosum; variably accompanied by sensorineural hearing loss and joint laxity evolving into joint contractures. 

Molecular pathology
Caused by defects of MED12, which encodes a protein of the CDK8 subcomplex that modulates mediator complex-polymerase II interactions, thereby regulating transcription initiation and re-initiation rates.
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In this work, the iPP/functionalized graphene sheets (FGs) composites have been prepared using vane mixer which is a novel polymer processing equipment based on elongation flow field.
According to the OECD and UNOCH A, just over $3bn in development aid was sent by donors in the five years after the establishment of the FGS (2013-2017).
With its DT Refuel mobile application, FGS provides solutions to gas stations to improve their operations and their customers' experience.
Justice officials from the FGS also participated in a workshop on prosecution and adjudication of trafficking cases also conducted by an international organization.
Caption: Figure 2: Example of two different field gamma spectrometry (FGS) spectra acquired on outcrops of gabbro (blue) and leucogranite (red) with indication of the energy windows for element estimations.
Following the successful launch of a New Partnership Agreement between Somalia and the international community at the London Somalia Conference on 11 May 2017, and the broad commitments that were made to support the delivery of the NDP, this meeting was a timely opportunity for the FGS to further articulate its infrastructure investment priorities, and outline the financing options available for delivering these priorities.
In the present study, we compared results of PCR assay of cloacal swab samples and FGS for identifying infection with M ornithogaster in a large flock of apparently healthy budgerigars (M undulatus).
Twenty-five focus groups (FGs) (one per cocoa-producing community) were conducted with members of the Cocoa Farmers' Cooperatives from 11 cocoa-producing communities in the Amansie West District in the Ashanti Region and 14 communities in the Asunafo North District in the Brong Ahafo Region of Ghana.
"Despite the difficult socioeconomic conditions, recent efforts by the Federal Government of Somalia (FGS) are bearing fruit.
ABOARD THE FGS BONN, Rajab 14, 1437, April 21, 2016, SPA -- Efforts to stem the tide of migrants seeking the shores of Europe are working, NATO Secretary-General Jens Stoltenberg said Thursday, according to AP.
The purpose for this current study was to explore what factors first generational students (FGS) in comparison to non-first generational students (non-FGS) use to inform their perceived social status in an HBCU community.