Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency
| العنوان: | Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency |
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| المؤلفون: | Andrea Ballabio, A. Caiulo, Pietro Strisciuglio, Orsetta Zuffardi, Massimo Zollo, C. F. Cascioli, Romeo Carrozzo, D. Viggiano |
| المساهمون: | Ballabio, Andrea, Zollo, Massimo, Carrozzo, R, Caiulo, A, Zuffardi, O, Cascioli, Cf, Viggiano, D, Strisciuglio, Pietro, Ballabio, A, R., Carrozzo, A., Caiulo, O., Zuffardi, C. F., Cascioli, D., Viggiano |
| المصدر: | Scopus-Elsevier |
| سنة النشر: | 1991 |
| مصطلحات موضوعية: | musculoskeletal diseases, Male, medicine.medical_specialty, Chondrodysplasia Punctata, X Chromosome, Dwarfism, Biology, Short stature, Contiguous gene syndrome, Internal medicine, medicine, Steroid sulfatase, Humans, Chondrodysplasia punctata, Abnormalities, Multiple, Genetics (clinical), X chromosome, Sex Chromosome Aberrations, Arylsulfatases, X-linked ichthyosis, Ichthyosis, Infant, Newborn, Chromosome, medicine.disease, Endocrinology, Phenotype, Steryl-Sulfatase, medicine.symptom, Chromosome Deletion |
| الوصف: | We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another example of a contiguous gene syndrome in which the co-deletion of adjacent genes on a chromosome is responsible for a complex phenotype. |
| وصف الملف: | STAMPA |
| تدمد: | 0148-7299 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a91fddcd08aa5e8acccf4b9c1682f6b8Test https://pubmed.ncbi.nlm.nih.gov/1785631Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....a91fddcd08aa5e8acccf4b9c1682f6b8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 01487299 |
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