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BUBR1 mutation(passive) caused bythe Mosaic Variegated Aneuploidy ( MVA ) syndrome
Defects in USP9Xmay causegonadal degeneration in Turner syndrome
More than 35 mutations in the COLQ gene have been foundto causecongenital myasthenic syndrome
More than 30 mutations in the CHAT gene have been foundto causecongenital myasthenic syndrome
At least 45 mutations in the DOK7 gene have been foundto causecongenital myasthenic syndrome
prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit(passive) caused byCongenital myasthenic syndrome
At least 45 mutations in the RAPSN gene have been foundto causecongenital myasthenic syndrome
mutationscausingcongenital myasthenic syndrome
COLQ mutations(passive) caused bycongenital myasthenic syndrome
AGRN mutations(passive) caused bycongenital myasthenic syndrome
mutations in AGRN(passive) caused byCongenital myasthenic syndrome
novel COL13A1 mutations(passive) caused byCongenital myasthenic syndrome
decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit(passive) caused byCongenital myasthenic syndrome
The mutations identified in AGRN in our studymay causecongenital myasthenic syndrome
Mutations in COL13A1 have recently been foundto causecongenital myasthenic syndrome
LG2 Agrin mutationscausingcongenital Myasthenic syndrome
epsilon - AChR subunit truncating mutations(passive) caused bycongenital myasthenic syndrome
a chromosomal abnormality(passive) is caused bySYNDROME Turner 's syndrome
if defectivecausescongenital myasthenic syndrome
a fifth glycosylation gene , GMPPBcausecongenital myasthenic syndrome
Variants in SLC18A3 , vesicular acetylcholine transportercausecongenital myasthenic syndrome
monosomy X or a structural abnormality of the second X - chromosome(passive) is caused bythe Ullrich - Turner Syndrome ( UTS
by CMV infection(passive) caused bymosaic syndrome
a random event(passive) is caused byMosaic Down syndrome
the complete or partial lack of one of the(passive) is caused byTurner syndrome
by the absence or partial deletion of one of the X chromosomes ( 27(passive) is causedTurner syndrome
inflammation of the brachial plexus which is a large group of nerves in the shoulder(passive) is caused byParsonage - turner syndrome
by a partial deletion of the X chromosome , its possible , but rare(passive) caused byTurner syndrome
the complete or partial absence of one of the two X chromosomes normally found in women(passive) is caused byTurner Syndrome
the complete or partial absence of one of the two X chromosomes normally found in women(passive) is caused byTurner s Syndrome
the complete or partial lack of one of the female sex chromosomes(passive) is caused byTurner syndrome
by a single X chromosome(passive) caused byTurner Syndrome
what is known as a ring chromosomecausingTurner syndrome
by a partial deletion of the X chromosome(passive) caused byTurner syndrome
by a partial deletion on the X chromosome(passive) caused byTurner syndrome
by a partial deletion from the X chromosome(passive) caused byTurner syndrome
by a partial deletion in the X chromosome(passive) caused byTurner syndrome
by a partial deletion with the X chromosome(passive) caused byTurner syndrome
a partial deletion of the X chromosome(passive) caused byTurner syndrome
It is not knowncausesTurner syndrome
problems with growth and healthcausesproblems with growth and health
serious heart problemscan causeserious heart problems
from the complete or partial absence of an X chromosome in femalesresultsfrom the complete or partial absence of an X chromosome in females
disruptions with the formation of the neck and head , along with problems related to growth and pubertyto causedisruptions with the formation of the neck and head , along with problems related to growth and puberty
from a total or partial loss of the X chromosomeresultingfrom a total or partial loss of the X chromosome
brachial plexus inflammation without traumacausesbrachial plexus inflammation without trauma
brachial plexus inflammationcausesbrachial plexus inflammation
inflammation of the brachial plexuscausesinflammation of the brachial plexus
from a random event during cell division in early fetal developmentresultsfrom a random event during cell division in early fetal development
muscle weakness and paincan causemuscle weakness and pain
a variety of medical and developmental problems , including short stature , failure to start puberty , infertility , heart defects , certain learning disabilities and social adjustment problemscan causea variety of medical and developmental problems , including short stature , failure to start puberty , infertility , heart defects , certain learning disabilities and social adjustment problems
a variety of medical and developmental problems , including short stature , failure to begin puberty , infertility , heart defects and certain learning disabilitiescan causea variety of medical and developmental problems , including short stature , failure to begin puberty , infertility , heart defects and certain learning disabilities
a variety of medical and developmental problems , including short height , failure of the ovaries to develop and heart defectscan causea variety of medical and developmental problems , including short height , failure of the ovaries to develop and heart defects
a variety of medical and developmental problems , including short stature , failure to start puberty , infertility , and kidney and heart defectscan causea variety of medical and developmental problems , including short stature , failure to start puberty , infertility , and kidney and heart defects
a variety of medical and developmental problems , including short height , failure to start puberty , infertility , heart defects , certain learning disabilities and social adjustment problemscan causea variety of medical and developmental problems , including short height , failure to start puberty , infertility , heart defects , certain learning disabilities and social adjustment problems
a variety of medical and developmental problems , including short height , failure of the ovaries to develop and turner defectscan causea variety of medical and developmental problems , including short height , failure of the ovaries to develop and turner defects
problems with hearing , vision and infertility , but usually not with intellectual abilitymight causeproblems with hearing , vision and infertility , but usually not with intellectual ability
problems with hearing , vision and infertilitymight causeproblems with hearing , vision and infertility
a variety of medical and developmental problems , including short height , failure 4can causea variety of medical and developmental problems , including short height , failure 4
a variety of medical and developmental problems , including short height , failurecan causea variety of medical and developmental problems , including short height , failure
a variety of medical and developmental problems , including short height , failure of the ovariescan causea variety of medical and developmental problems , including short height , failure of the ovaries
a variety of medical and developmental problems , including short height and heart defectscan causea variety of medical and developmental problems , including short height and heart defects
a variety of medical and developmental problems , including short heightcan causea variety of medical and developmental problems , including short height
problems with hearing , vision and infertility , but normally not with intellectual abilitymay causeproblems with hearing , vision and infertility , but normally not with intellectual ability
due to the absence of one of the X chromosomecauseddue to the absence of one of the X chromosome
a variety of medical and developmental problems , including ... 8can causea variety of medical and developmental problems , including ... 8
any long - term effectsCan ... causeany long - term effects
alsocan ... resultalso
alsocan ... causealso
alsomay ... causealso
when a female has only one complete X chromosome ( rather then two X chromosomes ) in each cellresultswhen a female has only one complete X chromosome ( rather then two X chromosomes ) in each cell
wellmay ... leadwell
short stature and infertilitycausesshort stature and infertility
oftencausesoften
a range of medical and developmental problemscan causea range of medical and developmental problems
in problems with Listening to , vision and infertilitymay resultin problems with Listening to , vision and infertility
cardiovascular defects , especially problems with the aortacan also causecardiovascular defects , especially problems with the aorta
girls to have one complete X chromosome and either a missing chromosome or only a part of the other X chromosomecausesgirls to have one complete X chromosome and either a missing chromosome or only a part of the other X chromosome
in a female with various disabilitiesresultsin a female with various disabilities
issuescould causeissues