Rare occurrence of eight-and-a-half syndrome as a clinically isolated syndrome
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چکیده
منابع مشابه
A Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report
Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2018
ISSN: 1757-790X
DOI: 10.1136/bcr-2017-222057