التفاصيل البيبلوغرافية
| العنوان: |
Familial syndrome of endocrine and neuroectodermal abnormalities |
| المؤلفون: |
Karen E. Oerter, Theodore C. Friedman, Fernando Cassorla, Hans C. Anderson |
| المصدر: |
American journal of medical genetics. 44(4) |
| سنة النشر: |
1992 |
| مصطلحات موضوعية: |
Delayed puberty, Adult, Male, endocrine system, medicine.medical_specialty, Adolescent, Deafness, Diabetes mellitus, Internal medicine, Intellectual Disability, medicine, Endocrine system, Humans, Insulin, Acanthosis nigricans, Genetics (clinical), Pili torti, Elevated insulin, Puberty, Delayed, business.industry, Alopecia, Syndrome, medicine.disease, Pedigree, Endocrinology, Diabetes Mellitus, Type 2, Growth Hormone, Sensorineural hearing loss, Female, medicine.symptom, business, Gonadotropins, Ichthyosis vulgaris |
| الوصف: |
We report on a previously undescribed combination of endocrine and neuroectodermal abnormalities in four sibs from Burma. These abnormalities include low growth hormone levels in response to provocative stimuli, delayed puberty associated with prepubertal levels of gonadotropins in the males and pubertal levels of gonadotropins in the females, type II diabetes mellitus with elevated insulin levels, mild mental retardation, sensori-neural deafness, and alopecia without pili torti. They also had a characteristic facial appearance and fleshy hands and feet. This family appears to have a previously undescribed combination of endocrine and neuroectodermal abnormalities. © Wiley-Liss, Inc. |
| تدمد: |
0148-7299 |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1fbba1f565a5cdac14bbc99929146bd
https://pubmed.ncbi.nlm.nih.gov/1442893 |
| حقوق: |
CLOSED |
| رقم الأكسشن: |
edsair.doi.dedup.....b1fbba1f565a5cdac14bbc99929146bd |
| قاعدة البيانات: |
OpenAIRE |
