منابع مشابه
A WAGR Syndrome Case with Postaxial Polydactyly
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental Retardation which is invariably associated with an 11p13 deletion. This deletion included the PAX6 and WT1 genes as previously reported in typical WAGR patients. Ocular defects result from hemizygosity for the PAX6 gene. Urogenital and renal abnormalities and...
متن کاملPostaxial polydactyly in three Indian families.
In most of the reported pedigrees on human polydactyly, the manifestation of the trait has been attributed to a single autosomal dominant gene. That this gene is not always penetrant and exhibits a great degree of variable expressibility has been stressed by various authors (listed by Gates, 1946, and McKusick, 1966). By contrast, recessive polydactyly has been described by only a few authors (...
متن کاملAutosomal recessive postaxial polydactyly type A in a Sicilian family.
Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius.
متن کاملPostaxial polydactyly in forelimbs of CRABP-II mutant mice.
The cytoplasmic retinoic acid (RA)-binding protein CRABP-II is expressed widely throughout early morphogenesis in mouse embryo, but its expression becomes more restricted as organogenesis progresses. CRABP-II expression remains strong in the developing limb bud suggesting a role for this protein in limb patterning. Here, we show that the CRABP-II promoter can direct expression of a lacZ transge...
متن کاملReview of Literature: Genes Related to Postaxial Polydactyly
BACKGROUND Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes. There is no primary investigational strategy for PAP cases with single gene disorder in literature. PAP cases with single gene disorder can be classified according to common pathways and molecular basis. Molecular classification may help in diagnostic approach....
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ژورنال
عنوان ژورنال: Journal of Nepal Medical Association
سال: 2009
ISSN: 1815-672X,0028-2715
DOI: 10.31729/jnma.233