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 ?
Of course I dress it up with some 'find some references to use, link your AO1 to AO2' instructions, but actually what I'm asking for is their interpretation of the poem.
AO1 Haines said, "No matter how good the Army guys are, they just don't know all the hazards that could bite them when they operate off Navy ships at sea because they spend very little of their time at sea.
We had everything needed for the job: a speed-handle, the proper 7/16-inch socket to unlock the BRU, four people--including me--to assist lowering the tank, and an AO1 CDI to drop the tank.
AO1 Robert Herrera, one of Burdette's supervisors from USS Constellation who also transferred to Nimitz, has known the Sailor for over a year.
Analysis of the integration of this seismic data with regional well data identified gas prospects AO1 and AO2 in the Aptian clastic onlap play.
AO1 (AW/SW) Jacques Beaver, Boxer's FCPOA President, noted, "Serving chow, washing dishes, wiping tables, and replacing trays and silverware is one of the hardest jobs in the Navy .
Personnel like CWO3 Mike Patek, CWO2 Ramsaur, AO1 Brink, AO1 Klein, AT2 Fagg, and AT3 Schmahl led the Warhawks maintenance, ordnance, and avionics team and completed the inspection with a zero/zero, indicating no major or minor discrepancies.
AO1 (AW) Jeffrey Campbell, VFA-14 Safety Petty Officer, recognized the need for a new communication tool to deliver information about current operations shortly after joining the Tophatter Safety Department.
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.
AT3 Daniel Collins, AD2 Alex Cardenas, and AO1 Zebbie Perkins HSL-47
Integration of the ION NamibiaSPAN 2D seismic survey and completion of technical studies in the Southern blocks has identified the high risk, material gas prospect AO1 with a gross mean prospective resource in excess of 10Tcf (Chariot estimate, a CPR is underway).
AO1 Billy Washington hooks weapons boxes to a CH-46 Sea Knight helicopter for off-loading from the flight deck of USS Kitty Hawk (CV 63) during vertical replenishment operations.