نتایج جستجو برای: cartilage hair hypoplasia
تعداد نتایج: 77284 فیلتر نتایج به سال:
developmental midline perinasal masses in children are rare lesions specifically in association with choristomas. we encountered a 3-year-old boy with epiphora, a striking mass on the nasal bridge and ipsilateral nasal hypoplasia. ct scan imaging showed multiple calcified areas within the tumor in addition to linear defect in frontal bone, hypoplastic left ethmoidal sinus and left nasal cavity,...
To understand the role Fgf signalling in skin and hair follicle development, we analysed the phenotype of mice deficient for Fgfr2-IIIb and its main ligand Fgf10. These studies showed that the severe epidermal hypoplasia found in mice null for Fgfr2-IIIb is caused by a lack of the basal cell proliferation that normally results in a stratified epidermis. Although at term the epidermis of Fgfr2-I...
An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversio...
Composite chondrocutaneous grafts were applied to 12 patients in various forms to repair the columellar deficit, to form the nasal tubercle and nostril sill in cleft lip nose patients. Cleft lip-nose deformity patients with alar cartilage hypoplasia, obtuse angulation of the medial and lateral crura and the resulting plica vestibularis, internal nasal valve problems associated with the weakness...
We profiled soybean and Arabidopsis methylomes from the globular stage through dormancy and germination to understand the role of methylation in seed formation. CHH methylation increases significantly during development throughout the entire seed, targets primarily transposable elements (TEs), is maintained during endoreduplication, and drops precipitously within the germinating seedling. By co...
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