atelosteogenesis type 2

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atelosteogenesis type 2

An autosomal recessive condition (OMIM:256050) characterised by short limbs, small chest, scoliosis, equinovarus type clubfoot (talipes equinovarus), abducted thumbs and great toes, and cleft palate. Patients die of respiratory insufficiency shortly after birth due to airway collapse and pulmonary hypoplasia resulting from a small rib cage in utero.

Molecular pathology
Defects of SLC26A2, which encodes a sulfate transporter critical for cartilage formation that may play a role in enchondral bone formation, cause atelosteogenesis type 2.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Gaps in the [O.sub.2] trace correspond to instrument calibrations and filtering data between 200 and 400 hPa at airspeeds >215 m [s.sup.-1] when the AO2 inlet fractionated air.
e) deposits with agreed maturity over 2 years (AO2),
ARABIAN GULF - AO2 Jason Cooley, assigned to Strike Fighter Squadron 81, lowers the wing tip of an F/A-18E Super Hornet aircraft to offload ordnance aboard USS Carl Vinson (CVN 70).
Since the types of smart transducers are known, assign one of the valves to AO1 and the other valve to AO2, then assign one of the pumps to DO1 and the other pump to DO2.
* AO2 explain how language, structure and form contribute to writers' presentation of ideas, themes and settings.
Akutsu, Tomio Philippines 280mm SCT Cidadao, Antonio Portugal 254mm SCT & AO2 Cidadao, Antonio * Portugal 356mm SCT & AO2 Colville, Brian Canada 300mm SCT Parker, Donald Florida, USA 406mm refl.
Aerial observer two (AO2) fought the fire, while aerial observer one (AO1) retrieved the second fire bottle from the rear of the aircraft.