Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys
| Autor: | James V. Higgins, Yves Lacassie, Patrick Droste, Helga V. Toriello |
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| Rok vydání: | 1993 |
| Předmět: |
Male
medicine.medical_specialty Eye disease Facial Bones Aplasia cutis congenita Ectodermal Dysplasia Internal medicine Humans Medicine Eye Abnormalities Genetics (clinical) Pigmentation disorder Dermoid Cyst business.industry Eye Neoplasms Skull Epibulbar dermoids Macrocephaly Syndrome Aplasia medicine.disease Hyperpigmentation Dermatology medicine.anatomical_structure Endocrinology Child Preschool Scalp Skin Abnormalities medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics. 45:764-766 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320450620 |
| Popis: | We describe an apparently new syndrome in 2 unrelated boys with aplasia cutis congenita, epibulbar dermoids, postnatally appearing areas of truncal hyperpigmentation, and macrocephaly. © 1993 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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