atelosteogenesis type 1

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atelosteogenesis type 1

A lethal short-limb skeletal dysplasia (OMIM:108720) with vertebral defects, defective skeletal maturation, poorly modelled long bones and joint dislocations.

Molecular pathology
Defects in FLNB, which encodes filamin B, cause atelosteogenesis type 1.
References in periodicals archive ?
AOI, where defect data is automatically collected, maintained and monitored, is an ideal starting point for improving both product quality and yield.
But it didn't help AOI's status as "the business voice" when the Oregon Business Council (OBC), a policy-shaping organization made up of Oregon CEOs, took the uncharacteristic step of polling its members.
We gathered very positive feedback while demonstrating early 16-channel OBO prototypes at the European Conference on Optical Communications (ECOC) in Rome last year, commented David Chen, AOIs AVP of Transceiver Technology.
Omron exhibited its VP5200-V 3D SPI system, VT-S730 3D AOI system, and IP3000 automated review system.
For both conditions, Forecast Temperature, Forecast, and Weathercaster's Face AOI induced the greatest gaze among participants, while the Station Banner, Days of the Week, Scene Image, and Weathercaster's Hands AOIs induced the least amount of gaze.
3D measurement is not just a buzzword, but the future technology for AOI. AS 3D has proven its capability in volumetric solder paste measurement, we would expect the capability to view components and measure solder joints in 3D will prevail in A01 as well.
This agreement covers sales of Camtek's AOI systems to the semiconductor industry in Japan.
One telecommunications company building products in a low-volume, high-mix environment uses AOI in a pre-reflow function.
Incompetent film-set gopher Tomoya Kishida (Ichihara) finds out the girl (and fellow film buff) he loved, Aoi Sato (Juri Ueno), has died in a California plane crash, moments after he emails a picture of a rainbow to her mobile phone.
While a university student in Japan, Aoi became interested in the rest of Asia and made a trip to Thailand in 1995.
Associated Oregon Industries (AOI) made its position on the subject known when it issued a "Special Executive Memorandum" to the Oregon Legislature in mid-April.
The Arab Organization for Industrialization (AOI) and the Ministry of Health signed a protocol of cooperation, which aims at achieving self-sufficiency of self-destructing syringes and providing all the needs of the Ministry of Health concerning advanced medical equipment.