Lamellar Ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus
نویسندگان
چکیده
منابع مشابه
Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.
Lamellar ichthyosis (LI) is an inherited autosomal recessive disorder of cornification. It was recently demonstrated to result from deleterious mutations in the transglutaminase 1 (TGM1) gene. However, the disease was shown to be genetically heterogeneous, since some families were found to be unlinked to TGM1. Homozygosity mapping on three consanguinous families originating from Morocco shows (...
متن کاملType 2 diabetes locus on 12q15. Further mapping and mutation screening of two candidate genes.
We recently reported evidence of a novel type 2 diabetes locus placed on chromosome 12q15 between markers D12S375 and D12S1684 (Diabetes 48:2246-2251, 1999). Four multigenerational families having logarithm of odds (LOD) scores >1.0 in the original analysis were genotyped for 11 additional markers in this interval to refine this mapping; this allowed us to narrow the linked region to the interv...
متن کاملLamellar Ichthyosis with Rickets
Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas. Rickets is a condition in which there is ...
متن کاملthe effect of vocabulary instruction through semantic mapping on learning and recall of efl learners
چکیده ندارد.
15 صفحه اولOcular manifestations of congenital lamellar ichthyosis.
PURPOSE To describe the ophthalmic manifestations in a series of children with congenital lamellar ichthyosis. These cases presented with varying types of eyelid abnormality associated with the systemic disease. The clinical features and ophthalmic management were studied. METHODS The case histories of three children presenting to the oculoplastic clinic were reviewed. All were diagnosed with...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 1999
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5200271