A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.
This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies,...
Збережено в:
| Опубліковано в:: | J Med Genet |
|---|---|
| Автори: | , , , , , |
| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMJ Publishing Group
1975
|
| Предмети: | |
| Онлайн доступ: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013297/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1177286/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.12.3.308 |
| Теги: |
Немає тегів, Будьте першим, хто поставить тег для цього запису!
|