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searching for Kyphoscoliosis 23 found (57 total)

alternate case: kyphoscoliosis

Ehlers–Danlos syndromes (7,307 words) [view diff] exact match in snippet view article find links to article

displaying hypermobile metacarpophalangeal joints Kyphoscoliosis of the back of someone with kyphoscoliosis EDS. The weak connective tissue causes abnormal
STAC3 (160 words) [view diff] exact match in snippet view article find links to article
a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant
Respiratory failure (1,083 words) [view diff] exact match in snippet view article find links to article
problems (Guillain–Barré syndrome, motor neuron disease) Deformed (kyphoscoliosis), rigid (ankylosing spondylitis), or flail chest. Types 3 and 4 - https://www
GM1 gangliosidoses (554 words) [view diff] exact match in snippet view article find links to article
demineralization; thoracolumbar vertebral hypoplasia and beaking at age 3–6 months; kyphoscoliosis. *Dysostosis multiplex (as in the mucopolysaccharidoses) 10–80% of peripheral
Charles Epstein (geneticist) (408 words) [view diff] exact match in snippet view article
WE, Hecht F, Motulsky AG (1968). "Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears". The Journal of Pediatrics
Kyphosis (1,777 words) [view diff] exact match in snippet view article find links to article
Singh H (October 1999). "Natural history of congenital kyphosis and kyphoscoliosis. A study of one hundred and twelve patients". The Journal of Bone and
Spondyloepimetaphyseal dysplasia, Pakistani type (294 words) [view diff] exact match in snippet view article find links to article
skeletal dysplasia characterized by short stature, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, platyspondyly
X-linked recessive inheritance (1,571 words) [view diff] exact match in snippet view article find links to article
sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis as well as auditory and visual abnormalities. Fabry disease; A lysosomal
Lathyrism (1,287 words) [view diff] exact match in snippet view article find links to article
(BAPN), and characterized by hernias, aortic dissection, exostoses, and kyphoscoliosis and other skeletal deformities, apparently as the result of defective
List of genes mutated in cutaneous conditions (107 words) [view diff] exact match in snippet view article find links to article
Epidermolysis bullosa simplex with muscular dystrophy PLOD Lysyl hydroxylase Kyphoscoliosis variant of Ehlers–Danlos syndrome PPARG Köbberling–Dunnigan syndrome
Dystroglycan (1,562 words) [view diff] exact match in snippet view article find links to article
G (Jan 1995). "Genetic mapping of the mouse neuromuscular mutation kyphoscoliosis". Genomics. 25 (1): 207–13. doi:10.1016/0888-7543(95)80127-8. PMID 7774920
FKBP14 (370 words) [view diff] exact match in snippet view article find links to article
in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss". The American Journal of Human Genetics
Nevoid basal-cell carcinoma syndrome (966 words) [view diff] exact match in snippet view article find links to article
anomalies Intracranial calcification Skeletal abnormalities: bifid ribs, kyphoscoliosis, early calcification of falx cerebri (diagnosed with AP radiograph)
Alpha-mannosidosis (1,570 words) [view diff] exact match in snippet view article find links to article
hydrocephalus, otitis media, hearing loss, dental caries, joint symptoms, kyphoscoliosis, and mental state. Treatment is often limited to reducing or controlling
CRLF1 (879 words) [view diff] exact match in snippet view article find links to article
features in CRLF1 mutation include marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender
ARST (1,668 words) [view diff] exact match in snippet view article find links to article
people with contracture of the hip or knee, paresis of one arm, or kyphoscoliosis. In practice, this means they have limited function in at least one
LAF5 (classification) (1,157 words) [view diff] exact match in snippet view article
people with contracture of the hip or knee, paresis of one arm, or kyphoscoliosis. In practice, this means they have limited function in at least one
SMS (gene) (880 words) [view diff] exact match in snippet view article
"X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12". Am. J. Med. Genet. 64 (1): 50–8. doi:10
Fryns-Aftimos syndrome (207 words) [view diff] exact match in snippet view article find links to article
deficiency other brain anomalies drug-resistant movement limitations kyphoscoliosis "BWS is a genetically heterogeneous disorder, caused by a heterozygous
T44 (classification) (4,343 words) [view diff] exact match in snippet view article
people with contracture of the hip or knee, paresis of one arm, or kyphoscoliosis. In practice, this means they have limited function in at least one
List of diseases (M) (2,459 words) [view diff] exact match in snippet view article
syndrome Microcephaly autosomal dominant Microcephaly brachydactyly kyphoscoliosis Microcephaly brain defect spasticity hypernatremia Microcephaly cardiac
Wheelchair sport classification (4,344 words) [view diff] exact match in snippet view article find links to article
disabilities excluding OI, having brittle bone disease, or having severe kyphoscoliosis with poor sitting balance. After this, functional classification takes
Mega2, the Manipulation Environment for Genetic Analysis (2,377 words) [view diff] exact match in snippet view article find links to article
in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss". Am J Hum Genet. 90 (2): 201–216. doi:10