Johanson-Blizzard syndrome

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Johanson-Blizzard syndrome

(yō-hahn'sŏn bliz'ard), [MIM*243800]
a clinical syndrome manifested by pancreatic insufficiency, scalp defects, aplasia of the alae nasi, deafness, low birthweight, microcephaly, psychomotor delay, hypothyroidism, dwarfism, and missing permanent teeth.

Johanson-Blizzard syndrome

An autosomal recessive disorder (OMIM:243800) characterised by poor growth, mental retardation and dysmorphic features (e.g., aplasia or hypoplasia of nasal alae), abnormal hair patterns or scalp defects, and oligodontia. It is variably accompanied by hypothyroidism, sensorineural hearing loss, imperforate anus and pancreatic exocrine insufficiency.

Molecular pathology
Defects of UBR1, which encodes an E3 ubiquitin-protein ligase involved in protein degradation, cause Johanson-Blizzard syndrome.
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Five Rivers Cattle Feeding has 11 feed yards across Arizona, Colorado, Idaho, Kansas, Oklahoma and Texas, with feeding capacity of more than 900,000 head of cattle, and a long-term agreement to supply cattle to JBS USA beef processing plants.
Treasurer Curtis Pitt said the Governments support for JBS through the Jobs and Regional Growth Fund underlines the Palaszczuk Governments commitment to backing jobs and growing regional economies.
The processing plant that JBS inaugurated in October after an investment of US$80 million will increase the company's export volume from Paraguay by 87 percent in the mid-run.
Trading Standards photos of the work carried out by JBS Home Improvements Ltd
Conner shows that conspiracies were everywhere in the world of the JBS, whose members needed no evidence to believe in them.
Whereas the option of transfer to JBS or GCS was viable for some families, we realise that it was not for others.
Even a decade ago, JBS was still mainly focused on selling in Brazil.
22 September 2010 - In relation to its project to become the largest beef producer in the world, but also a major distribution platform for chilled and frozen products globally, beef giant JBS has equipped 1,500 of its long-haul lorries with VOLKSNET, an Iridium-based, Zatix-powered telematics solution.
Taaleem have further set JBS the mission of teaching Arabic as a modern language from Kindergarten to Secondary School and in so doing will pioneer the way to consolidated, consistent and successful learning.
Cuando la justicia de Estados Unidos impidio en febrero de 2009 que la gigante brasilena JBS adquiriera a su rival estadounidense National Beef, muchos analistas apostaron a que esa seria la senal de tregua para el procesador de carnes.
EUROPEAN Union (EU) regulatory approval has been granted for two Brazilian financial groups taking over major Brazil meat companies JBS SA and Bertin SA.