نتایج جستجو برای: robinow syndrome
تعداد نتایج: 621936 فیلتر نتایج به سال:
Zohreh Kavehmanesh , Ali Reza Shafiee 2,* 1Department of Pediatrics, Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran 2Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, IR Iran *Corresponding author: Ali Reza Shafiee, Student Research Committee, baqiyatallah hospital, Molasadra Street, Vanak Place, Tehran, IR Iran. Tel: +98-9192525889...
OBJECTIVE Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are responsible for the autosomal dominant (AD) form of RS. In AD Robinow patients, oral manifestations ...
Rathbun (1948) first described the syndrome of hypophosphatasia as a definite entity, although previous authors had described patients now thought to be examples of this syndrome. This disorder has also been called rickets with deficiency of alkaline phosphatase (Sobel, Clark, Fox and Robinow, 1953; Schlesinger, Luder and Bodian, 1955) and osteodysmetamorphosis foetalis (Engfeldt and Zetterstro...
BACKGROUND Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the PTCH1 gene (MIM *601309). METHODS AND RESULTS We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 M...
Mutations in ROR2 result in a spectrum of genetic disorders in humans that are classified, depending on the nature of the mutation and the clinical phenotype, as either autosomal dominant brachydactyly type B (BDB, MIM 113000) or recessive Robinow syndrome (RRS, MIM 268310). In an attempt to model BDB in mice, the mutation W749X was engineered into the mouse Ror2 gene. In contrast to the human ...
In recent years, much evidence has been obtained on the submicroscopic structure of bacterial cells. However, still much work remains to be done before one can have a clear picture of bacterial cytology. If further advances are to be expected in this field of study, some of the most fundamental problems of the bacterial nucleus should be clarified, namely what is the real nature of the nucleus,...
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