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 ?
An AO3 who was relatively new to our shop, an AOAN, and
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.
The combination of the Pioneer general use AO3 recorder and the Everest printer allow for high impact, professional quality DVD-R's to be created on-demand with no compromise over mass produced DVD's.
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.
The AO3 requirement for the student to 'show how the recreative process can highlight different interpretations of texts' also implies that both students and teachers have an understanding of the relationship between genres, for example how poetry might be exploited to highlight aspects of drama.
13 Jan 07--An AO3 from HS-7 was killed in a motorcycle mishap.
AO3 Thomas Zeman and AME3 Christopher Stark saved a young airman's life on 1 May when they tackled him moments before he went under an EA-6B Prowler and would have been sucked into the intake of the turning engine.
is the Rimage Producer II CD/DVD publishing system, featuring the latest in DVD technology -- general purpose AO3 drives.
AO3 Yari Quintana grabbed the out-of-control hose while AD2 Dan Cowan and AT3 Kyle Mahaffey put a crimp in it.
AO3 Yvette Hester stands by while awaiting further instructions during the assault rifle portion of small-arms qualifications aboard USS Harry S.