A new frameshift mutation in L1CAM producing X‐linked hydrocephalus
نویسندگان
چکیده
منابع مشابه
Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.
We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a C924T transition. She became pregnant 5...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2019
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.1031