DEL phenotype
نویسندگان
چکیده
منابع مشابه
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).
Smith-Magenis syndrome (SMS) is a distinct and clinically recognizable multiple congenital anomaly (MCA) and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. The phenotype of SMS has been well described and includes: a characteristic pattern of physical features; a hoarse, deep voice; speech delay with or without associated hearing loss; signs of peripheral...
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ژورنال
عنوان ژورنال: Immunohematology
سال: 2019
ISSN: 0894-203X,1930-3955
DOI: 10.21307/immunohematology-2019-019