نتایج جستجو برای: ectrodactyly
تعداد نتایج: 300 فیلتر نتایج به سال:
In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short philtrum, and broad nasal tip.
Ectrodactyly is a rare anomaly seen in the appendicular skeleton and characterized by cleft or split between bone soft tissue distal regions of extremities. may be associated with absence hypoplasia several carpal-metacarpal bones, phalanx duplication, metacarpal synostosis. In this case report, 2-years-old mixed breed male dog was presented withhold up left forelimb inspectional abnormality cl...
Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. Different combinations of these features are seen in five different syndromes, of which ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC) is the most common one. Mutations in p63 can...
We report on a male patient and members of his family with additional material in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsible for neonatal deaths ...
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