نتایج جستجو برای: autosomal recessive trait
تعداد نتایج: 117581 فیلتر نتایج به سال:
Alport syndrome (AS) is the most common hereditary nephritis often associated with extrarenal manifestations. It was first described by Alport on 1927. There is a primary disorder in collagen type IV which is the main component of the basement membranes. Alport syndrome is more frequently inherited as an X-linked and less commonly as an autosomal dominant or autosomal recessive trait. We descri...
Background: Dyskeratosis Congenita (DC) is a rare inherited disease with an incidence of approximately one case per million population. The disease is characterized by a classic triad: nail changes, color reticulated skin and oral leukoplakia. In these patients, premature death is often associated with bone marrow failure, infections, pulmonary complications, or malignancy. Three patterns of in...
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism resulting from deficiency hydroxylase (PAH).
The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unknown. To evaluate five candidate genes for an aetiological role in AI. In this study 20 consanguineous families with AI were identified in whom probands suggested autosomal recessive transmission. Family members were genotyped for genetic markers spanning five candidate genes: AMBN and ENAM (4q13....
The taste of sensitivity Phenylthiocarbamide (PTC), is autosomal dominant trait inherited. taster controled by allele while the non-taster determinated recessive allele. purpose this study was to determine prevalence and frequency alleles for PTC, as well inheritance patterns at population Gili Ketapang island, Probolinggo district. Determination sample or respondents carried out randomly, tota...
BACKGROUND Hypertrophic cardiomyopathy (HCM) due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved. METHODS A pedigree was identified with suspected autosomal recessive transmission of HCM. Twenty-six HCM-related gen...
Dear Editor; We read with interest two recent papers on Congenital insensitivity to pain with anhidrosis, entitled " Congenital insensitivity to pain and anhydrosis (CIPA) syndrome; a report of 4 cases " by Daneshjou et al [1] and " Congenital insensitivity to pain with anhidrosis (HSAN type IV), extremely rare syndrome that can be easily missed by bone and joint surgeons: a case report " by Al...
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