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H63D syndrome is a very rare clinical phenotype based on a homozygous mutation of the HFE gene.This mutation is associated with diverse health issues, however H63D syndrome is the only known specific expression of a homozygous HFE-H63D mutation to date.
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Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
respiratory distress syndrome; measles; meconium aspiration syndrome; metapneumovirus (hMPV) infection; necrotizing enterocolitis; neonatal conjunctivitis; parainfluenza (PIV) infection; pertussis; poliomyelitis; prenatal Listeria; Group B streptoccus infection; Tay–Sachs disease; tetanus; Ureaplasma urealyticum infection; respiratory ...
Bland-White-Garland syndrome; Blau syndrome; Blepharophimosis, ptosis, epicanthus inversus syndrome; Blind loop syndrome; Bloom syndrome; Blount's disease; Blue baby syndrome; Blue diaper syndrome; Blue rubber bleb nevus syndrome; Blue toe syndrome; Bobble-head doll syndrome; Body fat redistribution syndrome; Boerhaave syndrome; Bogart–Bacall ...
A Florida woman who allegedly snatched a three-year-old boy from his fenced-in yard and ran off down the street last week told the cops she shouldn’t be arrested because she “gave it back ...
J.D. Power released its 2024 mortgage lender customer satisfaction survey — and the results are surprising. Here are the major changes in lender satisfaction.
This variant may also be one of the factors modifying Wilson's disease phenotype, making the symptoms of the disease appear earlier. [ 16 ] Allele frequencies of HFE C282Y in ethnically diverse western European white populations are 5-14% [ 17 ] [ 18 ] and in North American non-Hispanic whites are 6-7%. [ 19 ]