VARIABLE PHENOTYPIC EXPRESSION IN A FAMILY WITH “CANDIDA ENDOCRINOPATHY SYNDROME”
نویسندگان
چکیده
منابع مشابه
[Oro-facial-digital syndrome type I: phenotypic variable expression].
Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is a developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. It is associated with malformation of the oral cavity, face, and digits. Furthermore, it is characterized by the presence of milia, hypotrichosis and polycystic kidney disease. We present two cases with clinical diagnosis of oral-facia...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1974
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197404000-00444