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Differential
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arachnodactyly
cardiomyopathy
cerebral venous thrombosis
cerebrovascular accident
cerebrovascular accident, young adult
children
cholelithiasis
Clinical Pathologic Conference(C.P.C.)
codfish vertebrae
congenital heart disease
congenital heart disease, CNS complications with
cortical vein thrombosis
cryptorchidism
cystinuria
developmental retardation
differential diagnosis
dural sinus thrombosis
dysmorphic
echocardiogram
enzyme, defect
facial anomalies
facial appearance, abnormal
facial hypoplasia
familial
feeding disorder
frontal bossing
gene mutation
genetic counselling
genetic neurologic disorders
genetic testing
head circumference
hearing loss
heart murmur
hemorrhagic diathesis
hepatosplenomegaly
heralding manifestation
homocystinuria
hyperhomocysteinemia
hypertelorism
hypertrophic cardiomyopathy
hypotonia
insulin resistance
intellectual deficit
joint hypermobility
kyphoscoliosis, neurologic causes of
lens, dislocation of
lens, ectopic
livedo reticularis
marfanoid skeletal abnormalities
melanomatosis, primary malignant
mental retardation
metabolic disorder, primary
microspherophakia
MRI, abnormal
MRI, venography
myopia
neck, webbed
Noonan Syndrome
osteoporosis
pectus excavatum
polyhydramnios
prognathism
psychiatric problems in neurologic disorders
psychosis
pulmonary stenosis
review article
scoliosis
scoliosis, neurologic association with
seizure
seizure, children
seizure, injury following
short stature
skin, lesions in neurologic disorders
treatment of neurologic disorder
urine test for metabolic disorders
valvulopathy
visual impairment
vomiting, recurrent
Showing articles 0 to 5 of 5

Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983

Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972



Showing articles 0 to 5 of 5