A new white forelock (poliosis) syndrome with multiple congenital malformations in two sibs
| Autor: | Z. Barzilay, R. M. Goodman, M. Frand, E. Nissan, Marjorie Hertz, Y. Yahav |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty genetic structures Genes Recessive Genetics Humans Medicine Abnormalities Multiple Congenital Malformation Syndrome Hair Color Genetics (clinical) White forelock business.industry Infant Congenital malformations Syndrome medicine.disease Dermatology eye diseases Pedigree Child Preschool Etiology sense organs business Multiple congenital malformations Poliosis |
| Zdroj: | Clinical Genetics. 17:437-442 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | Two Jewish Ashkenazi male sibs are reported as having a new syndrome consisting of a white forelock, distinct facial features associated with congenital malformations involving the eye, cardio-pulmonary and skeletal systems. It is postulated that the etiology of this disorder is genetic and transmitted either as an autosomal recessive or X-linked recessive conditions. |
| Databáze: | OpenAIRE |
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