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a mutation in a novel transmembrane protein(passive) is caused byectodermal dysplasia
mutation in a novel transmembrane protein(passive) is caused byectodermal dysplasia
by a novel mutation in EDA1 gene(passive) caused byectodermal dysplasia
mutation in a novel transmembrane(passive) is caused byectodermal dysplasia
a single abnormal gene or pair of abnormal genes(passive) is caused byectodermal dysplasia
GJA1 ) mutationcausesoculodentodigital dysplasia
At least four mutations in the ALX4 gene have been foundto causefrontonasal dysplasia
the mutation or deletion of certain genes located on different chromosomes(passive) is caused byEctodermal dysplasia
a development arrest at the junction of the lateral side of the nose and the maxilla , which results in a complete or non - complete cleft between the nose and the orbital floor ( nasoocular cleft ) or between the mouth , nose and the orbital floor ( oronasal - ocular cleft(passive) is caused byNasomaxillary dysplasia
mutations in the FGFR3 gene(passive) is caused byThanatophoric dysplasia
Mutations in the FGFR3 genecausethanatophoric dysplasia
mutationsmay causeectodermal dysplasia
a genecausingectodermal dysplasia
At least three mutations in the ALX1 gene have been foundto causefrontonasal dysplasia
WNT10A mutationcausesectodermal dysplasia
WNT10A mutationcausesectodermal dysplasia
novel COL2A1 mutations(passive) caused byinheritable epiphyseal dysplasia
recessive mutations in the ALX3 homeobox gene(passive) caused byfrontonasal dysplasia
mutationcausesectodermal dysplasia
a chromosomal mutation of the FGFR3 gene(passive) is caused byThanatophoric dysplasia
Mutations in the COL2A1 genecauseKniest dysplasia
by new mutations in the COL2A1 gene(passive) is caused byKniest dysplasia
by new mutations in the COL2A1 gene(passive) is causedKniest dysplasia
new mutations in the COL2A1 gene(passive) is caused byKniest dysplasia
Defects in NEMOcauseectodermal dysplasia
FGFR3 mutationscausingthanatophoric dysplasia
At least 7 mutations in the ALX3 gene are knownto causefrontonasal dysplasia
One or two abnormal genescauseEctodermal Dysplasia
by double missense FGFR3 mutations(passive) caused byThanatophoric dysplasia
double missense FGFR3 mutations(passive) caused byThanatophoric dysplasia
the results ... knownto causeEctodermal Dysplasia
A homozygous mutationcausesacromesomelic dysplasia
mutations in the gene for Fibroblast growth factor receptor 3(passive) are caused bythanatophoric dysplasia
The mutationscausingthanatophoric dysplasia
Genetic mutationsmay causeectodermal dysplasia
the SOX9 genecausescampomelic dysplasia
splice - site mutation in the PDS gene(passive) may be caused byMondini dysplasia
splice - site mutation in the PDS gene(passive) is caused byMondini dysplasia
by a matn3 mutation(passive) caused byepiphyseal dysplasia
dysplasia and two of whichcausethanatophoric dysplasia
to Medullary Sponge Kidney , PKD , etccan leadto Medullary Sponge Kidney , PKD , etc
a variety of other problems , including a kidney condition called nephronophthisis and eye abnormalitiescan also causea variety of other problems , including a kidney condition called nephronophthisis and eye abnormalities
to osteoarthritis of the hipmay leadto osteoarthritis of the hip
severe osteoarthritis of the hip jointcausingsevere osteoarthritis of the hip joint
instability of the hip joint ... but is also associated with the development of osteoarthritiscausesinstability of the hip joint ... but is also associated with the development of osteoarthritis
disruption to the development of their hair , teeth , skincausesdisruption to the development of their hair , teeth , skin
secondary osteoarthritiscausessecondary osteoarthritis
to severe leakage of the affected valvemay leadto severe leakage of the affected valve
progressive damage to the joint ... but the progression can be very slowcausesprogressive damage to the joint ... but the progression can be very slow
symptomscausessymptoms
displacement of resorption of teethcan causedisplacement of resorption of teeth
alsocausesalso
oftenleadsoften
baldness and missing teethcausesbaldness and missing teeth
The dominant type(passive) is caused byThe dominant type
a reduced ability to sweat , missing teeth and abnormal hair growthcausesa reduced ability to sweat , missing teeth and abnormal hair growth
Type I and II(passive) are causedType I and II
multiplecausesmultiple
from a heterozygous missense mutation ( L113P ) in GJA1 ( connexin 43resultingfrom a heterozygous missense mutation ( L113P ) in GJA1 ( connexin 43
about the most common spastichip diseasecausedabout the most common spastichip disease
secondary osteoarthritis in 25 percent to 50 percent of patients by the age of 50 yearscausessecondary osteoarthritis in 25 percent to 50 percent of patients by the age of 50 years
these parts of the body to develop abnormallymay causethese parts of the body to develop abnormally
to hip instability , labral damage , and early - onset arthritiscan leadto hip instability , labral damage , and early - onset arthritis
multiple developmental abnormalitiescausingmultiple developmental abnormalities
missing teeth and reduced jaw bonecausesmissing teeth and reduced jaw bone
in the perinatal periodoriginatingin the perinatal period
in the perinatal period originatingin the perinatal period
arthritis of elbow jointcausesarthritis of elbow joint
from mutations of the generesultsfrom mutations of the gene
to higher rates of breathing problems later in lifecan leadto higher rates of breathing problems later in life
to the dog experiencing pain in later life ... and may cause arthritismay leadto the dog experiencing pain in later life ... and may cause arthritis
to higher rates of breathing problemscan leadto higher rates of breathing problems
to anodontia and hypodontialeadsto anodontia and hypodontia
pain and lameness that can require expensive surgerycausespain and lameness that can require expensive surgery
skeletal abnormalitiescausesskeletal abnormalities
in eyelid and corneal abnormalitiescan resultin eyelid and corneal abnormalities
to the fdaleadsto the fda
pain and arthritiscan causepain and arthritis
the dental concerns(passive) caused bythe dental concerns
complications such as arthritis of the hipcan causecomplications such as arthritis of the hip