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.
(134.) "3a[TEXT NOT REPRODUCIBLE IN ASCII]opo[TEXT NOT REPRODUCIBLE IN ASCII]cKOMy OKp[TEXT NOT REPRODUCIBLE IN ASCII]c[TEXT NOT REPRODUCIBLE IN ASCII]o[TEXT NOT REPRODUCIBLE IN ASCII]KOMY," [GAMMA] AO3:235/3/47.
AO3 Explore relationships and comparisons between texts, selecting and evaluating relevant material
Building AO3, University of Sydney New South Wales 2006,
AO3 William Cinco, AO3 Bobb Rainwater, AO1 Phil Camp, AOAN Chris Rangel and AOAN Jeremy Roth of the "Fighting Vigilantes" as signed to VFA-151 prepare to install an Advanced Medium-Range Air to Air Amraam (AIM -120) missile on to an F/A-18.
* AO3 Willie Cinco and AO3 Aaron Harris of VFA-152 work together to download a bomb from the wing of an F/A-18 Hornet.
Upon reaching the jet, AO3 Briggs climbed into the cockpit and prepped the necessary switches for the test.
AO3 Kenneth Payne moves three 1,000-pound MK-83 bombs on the hangar deck of USS John C.
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 !