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 ?
CZ Custom makes all of the parts they use in their guns and now with the AO1 they make their own 100% made in the USA CZ-75 pattern pistol.
AO1 Brown: Of course, every day with corrections, it's day in, day out working with prisoners and working with staff and just working at corrections alone, you learn much more about corrections.
If any of the temperatures drop significantly, then AO1 is the chilled-water valve signal, and AO2 is the heating-water valve signal.
* AO1 respond to texts critically and imaginatively; select and evaluate relevant textual detail to illustrate and support interpretations
Another headline introduces an article that reads: Ao1,342 sympathizers with the (Arab) people of Gaza from 42 countries worldwide left their families and children to come and spend Christmas with the people and children of Gaza, but instead spent Christmas in Cairo protesting in front of the French embassy because (Arabs) have not allowed them to enter Gaza.
Norway proposed that the outer limits of the continental shelf to the east of formula point AO1, will be based on a straight line not exceeding 60 M in length, preliminarily connected to formula point AO95 ...
Aerial observer two (AO2) fought the fire, while aerial observer one (AO1) retrieved the second fire bottle from the rear of the aircraft.
More people have been forcibly disappeared in Guatemala during the past four decades than in any other Latin American country: since 1960, there have been approximately 45,000 disappearances reported in a country with a current population of ten million, most of the victims "disappearing" from peasant villages (Aizenman AO1).
No AUTOR ORIENTADOR DEFESA TITULO 01 AA1 AO1 1995 Educacao Ambiental na Escola: Para Alem das disciplinas 02 AA2 AO2 1996 A representacao social da fauna -- Uma contribuicao a Educacao Ambiental 03 AA3 AO3 1996 Educacao Ambiental: Consensos e Embates 04 AA4 AO4 2000 Concepcoes de Meio Ambiente: Um olhar sobre um curso de Licenciatura em Ciencias Biologicas 05 AA5 AO4 2002 A Educacao Ambiental nos Contextos Escolares: Para alem da limitacao compreensiva e da incapacidade discursive
"This course is designed to teach the basic fundamentals and to help develop the capabilities of motorcycle operators so they can be safe motorcyclists," said AO1 Rex Gallino, a RiderCoach instructor.