Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)
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چکیده
منابع مشابه
IPEX syndrome with membrano-proliferative nephrotic syndrome.
A two-month old male infant initially presented with cutaneous candidiasis. He is the second child of nonconsanguineous healthy parents whose first born is a bright six year old school girl. This boy was born at term following an uncomplicated antenatal period with a birth weight of 2.9 kg. He was exclusively breast fed for six months. Initial tests for immunodeficiency including full blood cou...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2010
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.02.004