atelosteogenesis type 3

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atelosteogenesis type 3

A lethal short-limb skeletal dysplasia (OMIM:108721) with vertebral defects, defective skeletal maturation, poorly modelled long bones and joint dislocations, accompanied by recurrent respiratory insufficiency and/or infections that usually result in early death.

Molecular pathology
Defects in FLNB, which encodes filamin B, cause atelosteogenesis type 3.
References in periodicals archive ?
During a routine post-fire inspection on the ML 97 fixed forward firing weapon system, AO3 Reynaldo Lopez noticed a 3-inch crack on the blast shield.
He is clearly exploring different interpretations, creating sympathy for the antagonist, AO3, and there are some quite sophisticated attempts to use structure and form to shape meaning, A02.
And AO3 Aaron Harris of VFA-151 work together to download a bomb from the wing of an F/A-18 Hornet.
Since the AO3 knew how long the prep work took, she had a built-in timer for this test.
AO3 Joseph Little moves Bols chaff loaders across the flight deck aboard USS George Washington (CVN-73).
AO3 David Lapradd inspects the boar of a M-79 grenade launcher in the ships armory of USS Inchon (MCS-12).
An AO3 who was relatively new to our shop, an AOAN, and
I disarmed the inboard side of the guillotines and saw the AO3 on the outboard side.
My AO3 decided to use the squadron's ordnance truck to tow the B-2 stand to the gate.
She was on the deck near the island with AO3 Adrian Conwell.
In my haste to avoid becoming another flight-deck statistic, I failed to notice the heroic and quick response from my trusty flight deck crew: AD2 Dan Cowan, AT3 Darryl Mahaffey, AO3 Yara Quintana, and AN Nino Noriega.
Contractor name : AO3 INDEPENDENT COMPUTER SEARCH PTY