Ectodermal dysplasia with blindness in sibs on the island of Rodrigues.
نویسندگان
چکیده
A brother and sister from the island of Rodrigues had mental retardation, blindness owing to severe ocular malformations, short stature, dysmorphic facial features, hypotrichosis, and dental abnormalities. It is likely that they have a hitherto unrecognised autosomal recessive ectodermal dysplasia syndrome.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 29 5 شماره
صفحات -
تاریخ انتشار 1992