منابع مشابه
Thanatophoric dysplasia in identical twins.
Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.
متن کاملHypohidrotic (anhidrotic) ectodermal dysplasia in female twins.
Autosomal recessive hereditary ectodermal dysplasia (HED) has not been described in sub-Saharan Africa. It is acknowledged to be rarer than the occasionally reported x-linked and autosomal dominant variants. We report a pair of Nigerian female twins with family history and clinical features suggestive of recessive HED, thereby showing the existence of this rare form in sub-Saharan Africa.
متن کاملMedical sequencing of de novo ectodermal dysplasia in identical twins and evaluation of the potential eligibility for recombinant EDA therapy
The purpose of this study was to test two 8-year-old identical twins with ectodermal dysplasia (ED) and their unaffected parents for the presence of mutations in the EDA gene with the hypothesis that they might be carrying a de novo mutation in EDA and potentially eligible for recombinant EDA therapy. DNA was extracted using saliva samples obtained from the identical twin girls and both parents...
متن کاملNarcolepsy in identical twins.
Narcolepsy has been observed in chronic encephalitis, cerebral arteriosclerosis, brain tumour, and following trauma, but when these cases are excluded there remains a group without demonstrable brain pathology. The existence of this idiopathic group has been a controversial subject. Among the more impressive evidence is that suggesting a hereditary factor in idiopathic narcolepsy. To date this ...
متن کامل[Sarcoidosis in identical twins].
M.R.C.S., F.R.S., and R. B. THOMPSON, M.D., M.R.C.P. .................................................... 605 Fulminating Staphylococcal Pneumonia Associated with Influenza Virus C C. S. DARKE, M.D., M.R.C.P., P. H. WATKINS, B.M., and J. E. M. WHITEHEAD, M.B., DiP.BaCt. ..... ......... 606 Protoveratrine A in Treatment of Hypertension IAN R. GRAY, M.D., M.R.C.P., and NEIL A. J. HAMER, M.B., M.R...
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ژورنال
عنوان ژورنال: Journal of Pharmacy and Bioallied Sciences
سال: 2013
ISSN: 0975-7406
DOI: 10.4103/0975-7406.114314