Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X‐linked microcephalic intellectual deficit
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چکیده
منابع مشابه
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit
To the Editor : Ten years ago we evaluated two brothers with intellectual disability (ID). The 29-year-old brother presented with moderate-severe ID with congenital microcephaly [(occipital-frontal circumference (OFC) 42.5 cm, −7.8 SD; height 182 cm, 75◦–90◦ percentile] (Fig. 1a). He was not able to read but was able to write his name. The younger 20-year-old brother exhibited severe ID, congen...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2013
ISSN: 0009-9163,1399-0004
DOI: 10.1111/j.1399-0004.2012.01901.x