The Wrinkly Skin Syndrome: A new heritable disorder of connective tissue
| Autor: | Y. Rotem, R. M. Goodman, M. Bat‐Miriam, Katznelson, E. Gazit |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Biopsy Connective tissue Genes Recessive Wrinkled skin Consanguinity Biology Skin Diseases Intellectual Disability Myopia Genetics medicine Humans Dermatoglyphics Child Skin pathology Genetics (clinical) Skin medicine.diagnostic_test Infant Syndrome Anatomy Heritable disorder medicine.disease Pedigree medicine.anatomical_structure Chorioretinitis Connective Tissue Child Preschool Female Wrinkly skin syndrome |
| Zdroj: | Clinical Genetics. 4:186-192 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1973.tb01141.x |
| Popis: | A new heritable disorder of connective tissue called the Wrinkly Skin Syndrome is described, This syndrome appears to be transmitted as an autosomal recessive disorder. Clinically it is characterized by the appearance at birth of wrinkled skin about the hands and feet together with an increase in the number of creases on the ventral surfaces. Other altered connective tissue manifestations are present. A discussion is given which distinguishes the clinical and genetic features of this syndrome from those found in similar known heritable disorders of connective tissue. |
| Databáze: | OpenAIRE |
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